TRIP11 (thyroid hormone receptor interactor 11) - Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Gene: TRIP11 (thyroid hormone receptor interactor 11) Homo sapiens
Analyze
Symbol: TRIP11
Name: thyroid hormone receptor interactor 11
RGD ID: 1318006
HGNC Page HGNC:12305
Description: Predicted to enable small GTPase binding activity. Involved in Golgi ribbon formation; cartilage development; and vesicle tethering to Golgi. Located in Golgi apparatus and endoplasmic reticulum-Golgi intermediate compartment. Implicated in achondrogenesis type IA.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ACG1A; CEV14; clonal evolution-related gene on chromosome 14 protein; GMAP-210; GMAP210; golgi-associated microtubule-binding protein 210; Golgi-microtubule-associated protein of 210 kDa; ODCD; ODCD1; thyroid receptor-interacting protein 11; TR-interacting protein 11; TRIP-11; TRIP230
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: AC133552.3   LOC100421169   LOC100421171   LOC341378  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381491,965,991 - 92,040,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1491,965,991 - 92,040,896 (-)EnsemblGRCh38hg38GRCh38
GRCh371492,432,335 - 92,506,403 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361491,505,614 - 91,576,139 (-)NCBINCBI36Build 36hg18NCBI36
Build 341491,505,613 - 91,576,139NCBI
Celera1472,486,852 - 72,559,002 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1472,615,074 - 72,687,331 (-)NCBIHuRef
CHM1_11492,372,573 - 92,444,720 (-)NCBICHM1_1
T2T-CHM13v2.01486,195,456 - 86,269,539 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abnormal cardiovascular system morphology  (IAGP)
Abnormal enchondral ossification  (IAGP)
Abnormal femoral metaphysis morphology  (IAGP)
Abnormal foot bone ossification  (IAGP)
Abnormal hand bone ossification  (IAGP)
Abnormal metaphysis morphology  (IAGP)
Absence of stomach bubble on fetal sonography  (IAGP)
Anteverted nares  (IAGP)
Aplasia/Hypoplasia of the lungs  (IAGP)
Autistic behavior  (IAGP)
Autosomal recessive inheritance  (IAGP)
Barrel-shaped chest  (IAGP)
Bell-shaped thorax  (IAGP)
Biconvex vertebral bodies  (IAGP)
Bowing of the arm  (IAGP)
Bowing of the legs  (IAGP)
Bowing of the long bones  (IAGP)
Brachydactyly  (IAGP)
Broad clavicles  (IAGP)
Cone-shaped epiphyses of the phalanges of the hand  (IAGP)
Cone-shaped epiphysis  (IAGP)
Coronal cleft vertebrae  (IAGP)
Coxa valga  (IAGP)
Cystic hygroma  (IAGP)
Death in infancy  (IAGP)
Decreased skull ossification  (IAGP)
Delayed eruption of teeth  (IAGP)
Delayed ossification of carpal bones  (IAGP)
Dentinogenesis imperfecta  (IAGP)
Depressed nasal bridge  (IAGP)
Disproportionate short-trunk short stature  (IAGP)
Femoral hernia  (IAGP)
Flared iliac wing  (IAGP)
Flaring of rib cage  (IAGP)
Flat acetabular roof  (IAGP)
Flat face  (IAGP)
Frontal bossing  (IAGP)
Genu recurvatum  (IAGP)
Genu varum  (IAGP)
Hydrops fetalis  (IAGP)
Hypoplasia of the radius  (IAGP)
Hypoplastic ischia  (IAGP)
Hypoplastic nasal bridge  (IAGP)
Hypoplastic sacrum  (IAGP)
Hypoplastic scapulae  (IAGP)
Increased nuchal translucency  (IAGP)
Irregular epiphyses  (IAGP)
Joint hypermobility  (IAGP)
Lethal skeletal dysplasia  (IAGP)
Long philtrum  (IAGP)
Low-set ears  (IAGP)
Macrocephaly  (IAGP)
Mesomelia  (IAGP)
Mesomelic short stature  (IAGP)
Metaphyseal cupping  (IAGP)
Metaphyseal widening  (IAGP)
Micrognathia  (IAGP)
Micromelia  (IAGP)
Motor delay  (IAGP)
Multiple rib fractures  (IAGP)
Narrow chest  (IAGP)
Narrow face  (IAGP)
Nephronophthisis  (IAGP)
Osteoporosis  (IAGP)
Patent ductus arteriosus  (IAGP)
Pectus carinatum  (IAGP)
Platyspondyly  (IAGP)
Polycystic kidney dysplasia  (IAGP)
Polyhydramnios  (IAGP)
Prominent forehead  (IAGP)
Protruding tongue  (IAGP)
Protuberant abdomen  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent fractures  (IAGP)
Recurrent respiratory infections  (IAGP)
Relative macrocephaly  (IAGP)
Respiratory distress  (IAGP)
Retrognathia  (IAGP)
Scoliosis  (IAGP)
Second trimester onset  (IAGP)
Severe limb shortening  (IAGP)
Severe short stature  (IAGP)
Short clavicles  (IAGP)
Short foot  (IAGP)
Short long bone  (IAGP)
Short metacarpal  (IAGP)
Short neck  (IAGP)
Short nose  (IAGP)
Short palm  (IAGP)
Short phalanx of finger  (IAGP)
Short ribs  (IAGP)
Short stature  (IAGP)
Short thorax  (IAGP)
Small epiphyses  (IAGP)
Spondylometaphyseal dysplasia  (IAGP)
Square pelvis bone  (IAGP)
Stillbirth  (IAGP)
Strabismus  (IAGP)
Talipes equinovarus  (IAGP)
Thickened nuchal skin fold  (IAGP)
Turricephaly  (IAGP)
Umbilical hernia  (IAGP)
Unossified vertebral bodies  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
3. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
4. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
5. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
PMID:7776974   PMID:8603043   PMID:9256431   PMID:9373237   PMID:10189370   PMID:11463340   PMID:12383348   PMID:12477932   PMID:12508121   PMID:15485806   PMID:16051665   PMID:16341674  
PMID:16344560   PMID:16713569   PMID:17081983   PMID:17438371   PMID:17979178   PMID:18029348   PMID:18391950   PMID:18391951   PMID:18451304   PMID:19112494   PMID:19266077   PMID:19324882  
PMID:19715559   PMID:19730683   PMID:20089971   PMID:20546612   PMID:20881960   PMID:21512126   PMID:21873635   PMID:22792062   PMID:23240775   PMID:23414517   PMID:24919196   PMID:25429064  
PMID:25468996   PMID:25473115   PMID:25717001   PMID:26496610   PMID:26638075   PMID:27173435   PMID:27458799   PMID:28514442   PMID:28692057   PMID:29022645   PMID:29395067   PMID:29507755  
PMID:29568061   PMID:29615496   PMID:29778605   PMID:29987050   PMID:30021884   PMID:30194290   PMID:30518689   PMID:30728324   PMID:31177093   PMID:31182584   PMID:31586073   PMID:31732153  
PMID:31871319   PMID:31903676   PMID:32344865   PMID:32877691   PMID:33111431   PMID:33746040   PMID:33853758   PMID:33916271   PMID:33961781   PMID:34057271   PMID:34079125   PMID:34432599  
PMID:34591612   PMID:34597346   PMID:34642815   PMID:34702444   PMID:34709727   PMID:34882091   PMID:35256949   PMID:35384245   PMID:35439318   PMID:35844135   PMID:35896951   PMID:35914814  
PMID:36215168   PMID:36237976   PMID:36931259   PMID:37232246   PMID:37689310   PMID:37774976   PMID:37827155  


Genomics

Comparative Map Data
TRIP11
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381491,965,991 - 92,040,059 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1491,965,991 - 92,040,896 (-)EnsemblGRCh38hg38GRCh38
GRCh371492,432,335 - 92,506,403 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361491,505,614 - 91,576,139 (-)NCBINCBI36Build 36hg18NCBI36
Build 341491,505,613 - 91,576,139NCBI
Celera1472,486,852 - 72,559,002 (-)NCBICelera
Cytogenetic Map14q32.12NCBI
HuRef1472,615,074 - 72,687,331 (-)NCBIHuRef
CHM1_11492,372,573 - 92,444,720 (-)NCBICHM1_1
T2T-CHM13v2.01486,195,456 - 86,269,539 (-)NCBIT2T-CHM13v2.0
Trip11
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3912101,800,304 - 101,879,463 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl12101,800,302 - 101,879,526 (-)EnsemblGRCm39 Ensembl
GRCm3812101,834,045 - 101,913,171 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl12101,834,043 - 101,913,267 (-)EnsemblGRCm38mm10GRCm38
MGSCv3712103,075,582 - 103,151,381 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3612102,235,058 - 102,314,813 (-)NCBIMGSCv36mm8
Celera12103,046,997 - 103,129,958 (-)NCBICelera
Cytogenetic Map12ENCBI
cM Map1251.3NCBI
Trip11
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr86126,760,263 - 126,832,619 (-)NCBIGRCr8
mRatBN7.26120,995,242 - 121,067,693 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl6120,998,733 - 121,067,781 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx6121,152,341 - 121,216,900 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.06121,447,603 - 121,512,158 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.06120,783,922 - 120,848,473 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.06125,741,520 - 125,812,926 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl6125,742,796 - 125,812,517 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.06134,953,134 - 135,024,813 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.46126,119,081 - 126,188,777 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera6118,497,405 - 118,564,538 (-)NCBICelera
Cytogenetic Map6q32NCBI
Trip11
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495543814,322,576 - 14,394,022 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495543814,327,400 - 14,394,022 (-)NCBIChiLan1.0ChiLan1.0
TRIP11
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21593,124,743 - 93,209,483 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11492,343,082 - 92,429,482 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01472,601,649 - 72,675,784 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11491,945,392 - 92,019,231 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1491,945,392 - 92,019,231 (-)Ensemblpanpan1.1panPan2
TRIP11
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.181,244,104 - 1,314,251 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl81,247,155 - 1,354,720 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha81,263,077 - 1,333,338 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.081,293,187 - 1,363,397 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl81,294,502 - 1,363,357 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.181,231,115 - 1,301,352 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.081,187,556 - 1,257,315 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.081,308,407 - 1,378,640 (-)NCBIUU_Cfam_GSD_1.0
Trip11
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440864013,167,028 - 13,233,555 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936733234,531 - 299,639 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936733233,723 - 300,150 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRIP11
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl7113,524,430 - 113,600,088 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.17113,524,406 - 113,600,411 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.27120,132,495 - 120,208,065 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRIP11
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12469,724,614 - 69,793,413 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2469,751,193 - 69,793,039 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605356,972,255 - 57,042,878 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trip11
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247348,608,325 - 8,682,299 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247348,604,565 - 8,682,597 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRIP11
669 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) single nucleotide variant Achondrogenesis, type IA [RCV001087540]|Connective tissue disorder [RCV002279309]|not provided [RCV000729388] Chr14:91972807 [GRCh38]
Chr14:92439151 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NP_004230.2(TRIP11):p.Trp1224Ter protein only Achondrogenesis, type IA [RCV000005844] Chr14:14q31-q32 pathogenic
NM_004239.4(TRIP11):c.202-2A>G single nucleotide variant Achondrogenesis, type IA [RCV000005845] Chr14:92025422 [GRCh38]
Chr14:92491766 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.5335G>T (p.Val1779Leu) single nucleotide variant not provided [RCV000729436] Chr14:91976115 [GRCh38]
Chr14:92442459 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1184C>T (p.Ser395Phe) single nucleotide variant not specified [RCV000603021] Chr14:92014217 [GRCh38]
Chr14:92480561 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.484A>T (p.Met162Leu) single nucleotide variant Achondrogenesis, type IA [RCV001302570]|Inborn genetic diseases [RCV003166704] Chr14:92021660 [GRCh38]
Chr14:92488004 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.790C>T (p.Arg264Ter) single nucleotide variant Achondrogenesis, type IA [RCV000005843]|Goldblatt syndrome [RCV000757981] Chr14:92015729 [GRCh38]
Chr14:92482073 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) single nucleotide variant Achondrogenesis, type IA [RCV000005846]|Connective tissue disorder [RCV002276533]|not provided [RCV000725982] Chr14:92005874 [GRCh38]
Chr14:92472218 [GRCh37]
Chr14:14q32.12
pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1 copy number loss See cases [RCV000051551] Chr14:90255156..95274696 [GRCh38]
Chr14:90721500..95741033 [GRCh37]
Chr14:89791253..94810786 [NCBI36]
Chr14:14q32.11-32.13
pathogenic
GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3 copy number gain See cases [RCV000052295] Chr14:86094030..106832642 [GRCh38]
Chr14:86560374..107240869 [GRCh37]
Chr14:85630127..106311914 [NCBI36]
Chr14:14q31.3-32.33
pathogenic
GRCh38/hg38 14q24.2-32.2(chr14:72787506-99596719)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052293]|See cases [RCV000052293] Chr14:72787506..99596719 [GRCh38]
Chr14:73254214..100063056 [GRCh37]
Chr14:72323967..99132809 [NCBI36]
Chr14:14q24.2-32.2
pathogenic
GRCh38/hg38 14q31.2-32.33(chr14:83912345-106855405)x3 copy number gain See cases [RCV000052294] Chr14:83912345..106855405 [GRCh38]
Chr14:84378689..107263620 [GRCh37]
Chr14:83448442..106334665 [NCBI36]
Chr14:14q31.2-32.33
pathogenic
GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3 copy number gain See cases [RCV000052296] Chr14:91455861..106832642 [GRCh38]
Chr14:91922205..107240869 [GRCh37]
Chr14:90991958..106311914 [NCBI36]
Chr14:14q32.12-32.33
pathogenic
NM_004239.3(TRIP11):c.5791C>T (p.Pro1931Ser) single nucleotide variant Malignant melanoma [RCV000070656] Chr14:91969822 [GRCh38]
Chr14:92436166 [GRCh37]
Chr14:91505919 [NCBI36]
Chr14:14q32.12
not provided
NM_004239.3(TRIP11):c.4669C>A (p.Gln1557Lys) single nucleotide variant Malignant melanoma [RCV000062811] Chr14:91999997 [GRCh38]
Chr14:92466341 [GRCh37]
Chr14:91536094 [NCBI36]
Chr14:14q32.12
not provided
NM_004239.4(TRIP11):c.460C>T (p.Pro154Ser) single nucleotide variant not provided [RCV001813021] Chr14:92021684 [GRCh38]
Chr14:92488028 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) single nucleotide variant Achondrogenesis, type IA [RCV001089222]|not provided [RCV000841294]|not specified [RCV000175183] Chr14:91976152 [GRCh38]
Chr14:92442496 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) single nucleotide variant Achondrogenesis, type IA [RCV000303439]|Goldblatt syndrome [RCV001838554]|not provided [RCV001812154]|not specified [RCV000175447] Chr14:91974722 [GRCh38]
Chr14:92441066 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4519G>A (p.Ala1507Thr) single nucleotide variant Achondrogenesis, type IA [RCV001333212] Chr14:92003457 [GRCh38]
Chr14:92469801 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3932T>C (p.Ile1311Thr) single nucleotide variant Achondrogenesis, type IA [RCV001348435]|Inborn genetic diseases [RCV003169709] Chr14:92004044 [GRCh38]
Chr14:92470388 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4063T>A (p.Ser1355Thr) single nucleotide variant Achondrogenesis, type IA [RCV000340266]|not provided [RCV000174095] Chr14:92003913 [GRCh38]
Chr14:92470257 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) single nucleotide variant Achondrogenesis, type IA [RCV001085934]|Connective tissue disorder [RCV002277346]|Inborn genetic diseases [RCV002516651]|not provided [RCV000724732] Chr14:91993832 [GRCh38]
Chr14:92460176 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.4892+10del deletion Achondrogenesis, type IA [RCV002516633]|not provided [RCV000174533] Chr14:91999230 [GRCh38]
Chr14:92465574 [GRCh37]
Chr14:14q32.12
benign|uncertain significance
GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3 copy number gain See cases [RCV000134000] Chr14:73655772..106879298 [GRCh38]
Chr14:74122475..107287505 [GRCh37]
Chr14:73192228..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3 copy number gain See cases [RCV000135543] Chr14:20151149..106855263 [GRCh38]
Chr14:20619308..107263478 [GRCh37]
Chr14:19689148..106334523 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3 copy number gain See cases [RCV000138230] Chr14:77222795..106879298 [GRCh38]
Chr14:77689138..107287505 [GRCh37]
Chr14:76758891..106358550 [NCBI36]
Chr14:14q24.3-32.33
pathogenic
NM_004239.4(TRIP11):c.4087A>G (p.Ile1363Val) single nucleotide variant not provided [RCV000514830] Chr14:92003889 [GRCh38]
Chr14:92470233 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3 copy number gain See cases [RCV000143373] Chr14:20043514..106877229 [GRCh38]
Chr14:20511673..107285437 [GRCh37]
Chr14:19581513..106356482 [NCBI36]
Chr14:14q11.2-32.33
pathogenic
NM_004239.4(TRIP11):c.499A>G (p.Ile167Val) single nucleotide variant not provided [RCV000178207] Chr14:92021645 [GRCh38]
Chr14:92487989 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) single nucleotide variant Achondrogenesis, type IA [RCV000684947]|Connective tissue disorder [RCV002277400]|not provided [RCV000178208] Chr14:92021762 [GRCh38]
Chr14:92488106 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) single nucleotide variant Achondrogenesis, type IA [RCV000755412]|Connective tissue disorder [RCV002278324]|Inborn genetic diseases [RCV002518149]|not provided [RCV001705435]|not specified [RCV000359112] Chr14:92004372 [GRCh38]
Chr14:92470716 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1375G>A (p.Ala459Thr) single nucleotide variant Inborn genetic diseases [RCV002533799]|not provided [RCV000756813] Chr14:92007792 [GRCh38]
Chr14:92474136 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.332A>C (p.Lys111Thr) single nucleotide variant not provided [RCV000756814] Chr14:92021812 [GRCh38]
Chr14:92488156 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5719+2T>C single nucleotide variant Achondrogenesis, type IA [RCV000610429]|not provided [RCV001764723]|not specified [RCV000824805] Chr14:91972715 [GRCh38]
Chr14:92439059 [GRCh37]
Chr14:14q32.12
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.4776A>G (p.Glu1592=) single nucleotide variant Achondrogenesis, type IA [RCV000368465] Chr14:91999356 [GRCh38]
Chr14:92465700 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2494G>A (p.Asp832Asn) single nucleotide variant Achondrogenesis, type IA [RCV000266300] Chr14:92005482 [GRCh38]
Chr14:92471826 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*383del deletion Achondrogenesis [RCV000267375] Chr14:91969290 [GRCh38]
Chr14:92435634 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*840A>G single nucleotide variant Achondrogenesis, type IA [RCV000348926] Chr14:91968833 [GRCh38]
Chr14:92435177 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) single nucleotide variant Achondrogenesis, type IA [RCV001079434]|not provided [RCV000731242] Chr14:92006202 [GRCh38]
Chr14:92472546 [GRCh37]
Chr14:14q32.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.*1374A>C single nucleotide variant Achondrogenesis, type IA [RCV000269921] Chr14:91968299 [GRCh38]
Chr14:92434643 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) single nucleotide variant Achondrogenesis, type IA [RCV000952729]|Connective tissue disorder [RCV002278411]|not specified [RCV000437056] Chr14:92005325 [GRCh38]
Chr14:92471669 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4443G>A (p.Ala1481=) single nucleotide variant Achondrogenesis, type IA [RCV000288620] Chr14:92003533 [GRCh38]
Chr14:92469877 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.*387del deletion Achondrogenesis [RCV000273299] Chr14:91969286 [GRCh38]
Chr14:92435630 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.-333G>A single nucleotide variant Achondrogenesis, type IA [RCV000353242]|Achondrogenesis, type IA [RCV002480136] Chr14:92040018 [GRCh38]
Chr14:92506362 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) single nucleotide variant Achondrogenesis, type IA [RCV000892129]|Achondrogenesis, type IA [RCV002504082]|Connective tissue disorder [RCV002278420]|not specified [RCV000604722] Chr14:92039579 [GRCh38]
Chr14:92505923 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_004239.4(TRIP11):c.5777G>A (p.Arg1926His) single nucleotide variant Achondrogenesis, type IA [RCV000290540] Chr14:91969836 [GRCh38]
Chr14:92436180 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) single nucleotide variant Achondrogenesis, type IA [RCV000972511]|Connective tissue disorder [RCV002278404]|not provided [RCV001812827]|not specified [RCV000611847] Chr14:92003469 [GRCh38]
Chr14:92469813 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.-265C>A single nucleotide variant Achondrogenesis, type IA [RCV000310969] Chr14:92039950 [GRCh38]
Chr14:92506294 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) single nucleotide variant Achondrogenesis, type IA [RCV000555757]|Connective tissue disorder [RCV002278398]|not provided [RCV001812823]|not specified [RCV000422749] Chr14:91969832 [GRCh38]
Chr14:92436176 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*163C>T single nucleotide variant Achondrogenesis, type IA [RCV000292303]|not provided [RCV001539700] Chr14:91969510 [GRCh38]
Chr14:92435854 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) single nucleotide variant Achondrogenesis, type IA [RCV000292242]|Connective tissue disorder [RCV002278415]|not provided [RCV001812829]|not specified [RCV000607343] Chr14:92006072 [GRCh38]
Chr14:92472416 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4050A>C (p.Glu1350Asp) single nucleotide variant Achondrogenesis, type IA [RCV000704676] Chr14:92003926 [GRCh38]
Chr14:92470270 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) single nucleotide variant Achondrogenesis, type IA [RCV000312673]|Inborn genetic diseases [RCV003165849] Chr14:92004876 [GRCh38]
Chr14:92471220 [GRCh37]
Chr14:14q32.12
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) single nucleotide variant Achondrogenesis, type IA [RCV000952726]|Connective tissue disorder [RCV002278407]|not specified [RCV000420511] Chr14:92004262 [GRCh38]
Chr14:92470606 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) single nucleotide variant Achondrogenesis, type IA [RCV000276143]|Connective tissue disorder [RCV002278403]|not provided [RCV001812826]|not specified [RCV000434256] Chr14:91999405 [GRCh38]
Chr14:92465749 [GRCh37]
Chr14:14q32.12
benign|uncertain significance
NM_004239.4(TRIP11):c.*952A>T single nucleotide variant Achondrogenesis, type IA [RCV000278834] Chr14:91968721 [GRCh38]
Chr14:92435065 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2237T>C (p.Leu746Pro) single nucleotide variant Achondrogenesis, type IA [RCV000793388] Chr14:92005739 [GRCh38]
Chr14:92472083 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.425C>T (p.Ala142Val) single nucleotide variant Achondrogenesis, type IA [RCV000259889] Chr14:92021719 [GRCh38]
Chr14:92488063 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2864C>A (p.Thr955Asn) single nucleotide variant Achondrogenesis, type IA [RCV000277559] Chr14:92005112 [GRCh38]
Chr14:92471456 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) single nucleotide variant Achondrogenesis, type IA [RCV000532077]|Connective tissue disorder [RCV002278402]|not provided [RCV001812825]|not specified [RCV000602527] Chr14:91999320 [GRCh38]
Chr14:92465664 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*312A>G single nucleotide variant Achondrogenesis, type IA [RCV000260495] Chr14:91969361 [GRCh38]
Chr14:92435705 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5829C>T (p.Pro1943=) single nucleotide variant Achondrogenesis, type IA [RCV000296490]|not provided [RCV000591240] Chr14:91969784 [GRCh38]
Chr14:92436128 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.-61C>T single nucleotide variant Achondrogenesis, type IA [RCV000296157]|not provided [RCV001812833] Chr14:92039746 [GRCh38]
Chr14:92506090 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.-331C>G single nucleotide variant Achondrogenesis, type IA [RCV000298371]|not provided [RCV001551024] Chr14:92040016 [GRCh38]
Chr14:92506360 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5192A>G (p.Asp1731Gly) single nucleotide variant Achondrogenesis, type IA [RCV000298501]|not provided [RCV001572391] Chr14:91988352 [GRCh38]
Chr14:92454696 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.202-7T>A single nucleotide variant Achondrogenesis, type IA [RCV000952731]|Connective tissue disorder [RCV002278419]|not specified [RCV000436320] Chr14:92025427 [GRCh38]
Chr14:92491771 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5571T>C (p.Asn1857=) single nucleotide variant Achondrogenesis, type IA [RCV000390612] Chr14:91974630 [GRCh38]
Chr14:92440974 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) single nucleotide variant Achondrogenesis, type IA [RCV000887814]|Connective tissue disorder [RCV002278406]|not specified [RCV000506817] Chr14:92003837 [GRCh38]
Chr14:92470181 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.830C>G (p.Ser277Cys) single nucleotide variant Achondrogenesis, type IA [RCV000367502] Chr14:92014571 [GRCh38]
Chr14:92480915 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.823+4A>T single nucleotide variant Achondrogenesis, type IA [RCV000263550] Chr14:92015692 [GRCh38]
Chr14:92482036 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*1294A>G single nucleotide variant Achondrogenesis, type IA [RCV000264169] Chr14:91968379 [GRCh38]
Chr14:92434723 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.183T>C (p.His61=) single nucleotide variant Achondrogenesis, type IA [RCV000320601] Chr14:92033210 [GRCh38]
Chr14:92499554 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.5811A>C (p.Gly1937=) single nucleotide variant Achondrogenesis, type IA [RCV000344408] Chr14:91969802 [GRCh38]
Chr14:92436146 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1191C>G (p.Ala397=) single nucleotide variant not provided [RCV000273339] Chr14:92011791 [GRCh38]
Chr14:92478135 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2584A>C (p.Asn862His) single nucleotide variant not provided [RCV000302868] Chr14:92005392 [GRCh38]
Chr14:92471736 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) single nucleotide variant Achondrogenesis, type IA [RCV000952730]|Connective tissue disorder [RCV002278412]|not specified [RCV000426820] Chr14:92005593 [GRCh38]
Chr14:92471937 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.-24G>A single nucleotide variant Achondrogenesis, type IA [RCV000345286]|not specified [RCV000616164] Chr14:92039709 [GRCh38]
Chr14:92506053 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) single nucleotide variant Achondrogenesis, type IA [RCV000968636]|Connective tissue disorder [RCV002278410]|not provided [RCV001812828]|not specified [RCV000420279] Chr14:92005045 [GRCh38]
Chr14:92471389 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) single nucleotide variant Achondrogenesis, type IA [RCV000394299]|Connective tissue disorder [RCV002278400]|not specified [RCV000419970] Chr14:91988289 [GRCh38]
Chr14:92454633 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2710A>G (p.Ile904Val) single nucleotide variant Achondrogenesis, type IA [RCV000271926] Chr14:92005266 [GRCh38]
Chr14:92471610 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*891A>G single nucleotide variant Achondrogenesis, type IA [RCV000282225] Chr14:91968782 [GRCh38]
Chr14:92435126 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) single nucleotide variant Achondrogenesis, type IA [RCV000555883]|Connective tissue disorder [RCV002278418]|not provided [RCV001812831]|not specified [RCV000439731] Chr14:92021739 [GRCh38]
Chr14:92488083 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) single nucleotide variant Achondrogenesis, type IA [RCV000962507]|Connective tissue disorder [RCV002278399]|not specified [RCV000428124] Chr14:91972785 [GRCh38]
Chr14:92439129 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2829T>C (p.Phe943=) single nucleotide variant Achondrogenesis, type IA [RCV000325942] Chr14:92005147 [GRCh38]
Chr14:92471491 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.*345T>C single nucleotide variant Achondrogenesis, type IA [RCV000371538]|not provided [RCV001653546] Chr14:91969328 [GRCh38]
Chr14:92435672 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) single nucleotide variant Achondrogenesis, type IA [RCV001078472]|Connective tissue disorder [RCV002278405]|not provided [RCV000756810]|not specified [RCV000597547] Chr14:92003563 [GRCh38]
Chr14:92469907 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_004239.4(TRIP11):c.*1339dup duplication Achondrogenesis [RCV000327438] Chr14:91968333..91968334 [GRCh38]
Chr14:92434677..92434678 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) single nucleotide variant Achondrogenesis, type IA [RCV000952728]|Connective tissue disorder [RCV002278409]|not specified [RCV000430535] Chr14:92004858 [GRCh38]
Chr14:92471202 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.1527+6A>G single nucleotide variant Achondrogenesis, type IA [RCV000968637]|Connective tissue disorder [RCV002278416]|not provided [RCV001812830]|not specified [RCV000445105] Chr14:92007634 [GRCh38]
Chr14:92473978 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) single nucleotide variant Achondrogenesis, type IA [RCV001081732]|Achondrogenesis, type IA [RCV002487393]|Connective tissue disorder [RCV002278414]|not provided [RCV000513946]|not specified [RCV000417599] Chr14:92005842 [GRCh38]
Chr14:92472186 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*246A>G single nucleotide variant Achondrogenesis, type IA [RCV000375039] Chr14:91969427 [GRCh38]
Chr14:92435771 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4173C>T (p.Thr1391=) single nucleotide variant Achondrogenesis, type IA [RCV001086094]|not provided [RCV000388307] Chr14:92003803 [GRCh38]
Chr14:92470147 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.*430A>G single nucleotide variant Achondrogenesis, type IA [RCV000308531] Chr14:91969243 [GRCh38]
Chr14:92435587 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) single nucleotide variant Achondrogenesis, type IA [RCV000329288]|not provided [RCV001564159] Chr14:92005309 [GRCh38]
Chr14:92471653 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1289A>G (p.Glu430Gly) single nucleotide variant Achondrogenesis, type IA [RCV000352572]|Achondrogenesis, type IA [RCV002494988]|not provided [RCV000441201] Chr14:92011011 [GRCh38]
Chr14:92477355 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*544C>T single nucleotide variant Achondrogenesis, type IA [RCV000352762] Chr14:91969129 [GRCh38]
Chr14:92435473 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*100A>G single nucleotide variant Achondrogenesis, type IA [RCV000331013] Chr14:91969573 [GRCh38]
Chr14:92435917 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.438C>T (p.Phe146=) single nucleotide variant Achondrogenesis, type IA [RCV000354648] Chr14:92021706 [GRCh38]
Chr14:92488050 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) single nucleotide variant Achondrogenesis, type IA [RCV000355724]|Connective tissue disorder [RCV002278401]|not provided [RCV001812824]|not specified [RCV000613274] Chr14:91993883 [GRCh38]
Chr14:92460227 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*1060C>T single nucleotide variant Achondrogenesis, type IA [RCV000380370] Chr14:91968613 [GRCh38]
Chr14:92434957 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2357A>C (p.Asp786Ala) single nucleotide variant Achondrogenesis, type IA [RCV000380572] Chr14:92005619 [GRCh38]
Chr14:92471963 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.3666A>G (p.Glu1222=) single nucleotide variant Achondrogenesis, type IA [RCV000405477] Chr14:92004310 [GRCh38]
Chr14:92470654 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5574+19C>A single nucleotide variant Achondrogenesis, type IA [RCV002059094]|not provided [RCV000358083] Chr14:91974608 [GRCh38]
Chr14:92440952 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.5937A>G (p.Gln1979=) single nucleotide variant not provided [RCV000392733] Chr14:91969676 [GRCh38]
Chr14:92436020 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) single nucleotide variant Achondrogenesis, type IA [RCV000952727]|Connective tissue disorder [RCV002278408]|not specified [RCV000438108] Chr14:92004670 [GRCh38]
Chr14:92471014 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.1280T>C (p.Leu427Ser) single nucleotide variant Achondrogenesis, type IA [RCV000406125]|Connective tissue disorder [RCV002278417]|not provided [RCV000593586] Chr14:92011020 [GRCh38]
Chr14:92477364 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1689G>A (p.Lys563=) single nucleotide variant Achondrogenesis, type IA [RCV000406532] Chr14:92006287 [GRCh38]
Chr14:92472631 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1186+14G>A single nucleotide variant Achondrogenesis, type IA [RCV000312943] Chr14:92014201 [GRCh38]
Chr14:92480545 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.-365C>G single nucleotide variant Achondrogenesis, type IA [RCV000358368]|not provided [RCV001590942] Chr14:92040050 [GRCh38]
Chr14:92506394 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*610A>C single nucleotide variant Achondrogenesis, type IA [RCV000313905] Chr14:91969063 [GRCh38]
Chr14:92435407 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*1744G>A single nucleotide variant Achondrogenesis, type IA [RCV000314532] Chr14:91967929 [GRCh38]
Chr14:92434273 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*930C>T single nucleotide variant Achondrogenesis, type IA [RCV000336198] Chr14:91968743 [GRCh38]
Chr14:92435087 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) single nucleotide variant Achondrogenesis, type IA [RCV000972512]|Connective tissue disorder [RCV002278413]|not specified [RCV000604317] Chr14:92005759 [GRCh38]
Chr14:92472103 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*1339del deletion Achondrogenesis [RCV000384300] Chr14:91968334 [GRCh38]
Chr14:92434678 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) single nucleotide variant Achondrogenesis, type IA [RCV000893258]|Inborn genetic diseases [RCV003278760]|not specified [RCV000508397] Chr14:92003817 [GRCh38]
Chr14:92470161 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) single nucleotide variant Achondrogenesis, type IA [RCV000384439]|not provided [RCV001812832]|not specified [RCV000434104] Chr14:92039571 [GRCh38]
Chr14:92505915 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.4691A>C (p.Gln1564Pro) single nucleotide variant not provided [RCV000261319] Chr14:91999975 [GRCh38]
Chr14:92466319 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) single nucleotide variant Achondrogenesis, type IA [RCV001088960]|Connective tissue disorder [RCV002278312]|not provided [RCV000726133] Chr14:91974664 [GRCh38]
Chr14:92441008 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.-335G>A single nucleotide variant Achondrogenesis, type IA [RCV000267811] Chr14:92040020 [GRCh38]
Chr14:92506364 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*290A>G single nucleotide variant Achondrogenesis, type IA [RCV000318028] Chr14:91969383 [GRCh38]
Chr14:92435727 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.*1554T>A single nucleotide variant Achondrogenesis, type IA [RCV000362116] Chr14:91968119 [GRCh38]
Chr14:92434463 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.*9C>G single nucleotide variant Achondrogenesis, type IA [RCV000387882] Chr14:91969664 [GRCh38]
Chr14:92436008 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.950A>T (p.Asp317Val) single nucleotide variant Achondrogenesis, type IA [RCV001120672]|Connective tissue disorder [RCV002278271]|Inborn genetic diseases [RCV002519114]|not provided [RCV000264098] Chr14:92014451 [GRCh38]
Chr14:92480795 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5051A>G (p.Gln1684Arg) single nucleotide variant not provided [RCV000264962] Chr14:91995357 [GRCh38]
Chr14:92461701 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2756T>C (p.Ile919Thr) single nucleotide variant Achondrogenesis, type IA [RCV000364305]|not provided [RCV001770255] Chr14:92005220 [GRCh38]
Chr14:92471564 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) single nucleotide variant Achondrogenesis, type IA [RCV001080898]|not provided [RCV000299952] Chr14:92000046 [GRCh38]
Chr14:92466390 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.2498_2501del (p.Lys833fs) deletion Achondrogenesis, type IA [RCV000490493] Chr14:92005475..92005478 [GRCh38]
Chr14:92471819..92471822 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.5887G>A (p.Ala1963Thr) single nucleotide variant Achondrogenesis, type IA [RCV002063835]|not provided [RCV000488927] Chr14:91969726 [GRCh38]
Chr14:92436070 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.*384A>T single nucleotide variant Achondrogenesis, type IA [RCV000302667] Chr14:91969289 [GRCh38]
Chr14:92435633 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-337C>T single nucleotide variant Achondrogenesis, type IA [RCV000303531] Chr14:92040022 [GRCh38]
Chr14:92506366 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4780T>G (p.Ser1594Ala) single nucleotide variant Achondrogenesis, type IA [RCV000330135] Chr14:91999352 [GRCh38]
Chr14:92465696 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-58C>T single nucleotide variant Achondrogenesis [RCV000381123] Chr14:92039743 [GRCh38]
Chr14:92506087 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*409A>G single nucleotide variant Achondrogenesis, type IA [RCV000365566] Chr14:91969264 [GRCh38]
Chr14:92435608 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-272G>C single nucleotide variant Achondrogenesis, type IA [RCV000402648] Chr14:92039957 [GRCh38]
Chr14:92506301 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*628C>T single nucleotide variant Achondrogenesis, type IA [RCV000403004] Chr14:91969045 [GRCh38]
Chr14:92435389 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4699-4C>G single nucleotide variant Achondrogenesis, type IA [RCV000333579] Chr14:91999437 [GRCh38]
Chr14:92465781 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-255G>A single nucleotide variant Achondrogenesis, type IA [RCV000404779] Chr14:92039940 [GRCh38]
Chr14:92506284 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-128C>T single nucleotide variant Achondrogenesis, type IA [RCV000350626] Chr14:92039813 [GRCh38]
Chr14:92506157 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*1194A>G single nucleotide variant Achondrogenesis, type IA [RCV000321666] Chr14:91968479 [GRCh38]
Chr14:92434823 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3784A>G (p.Lys1262Glu) single nucleotide variant Achondrogenesis, type IA [RCV000286569] Chr14:92004192 [GRCh38]
Chr14:92470536 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-267A>G single nucleotide variant Achondrogenesis, type IA [RCV000337905] Chr14:92039952 [GRCh38]
Chr14:92506296 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*362C>G single nucleotide variant Achondrogenesis, type IA [RCV000323854] Chr14:91969311 [GRCh38]
Chr14:92435655 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*904A>G single nucleotide variant Achondrogenesis, type IA [RCV000374461] Chr14:91968769 [GRCh38]
Chr14:92435113 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.686T>C (p.Ile229Thr) single nucleotide variant Achondrogenesis, type IA [RCV000299842] Chr14:92015833 [GRCh38]
Chr14:92482177 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*491A>C single nucleotide variant Achondrogenesis, type IA [RCV000395637] Chr14:91969182 [GRCh38]
Chr14:92435526 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*383dup duplication Achondrogenesis [RCV000359690] Chr14:91969289..91969290 [GRCh38]
Chr14:92435633..92435634 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5457+13T>A single nucleotide variant Achondrogenesis, type IA [RCV000360475] Chr14:91975159 [GRCh38]
Chr14:92441503 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4851G>C (p.Glu1617Asp) single nucleotide variant Achondrogenesis, type IA [RCV001120487]|Inborn genetic diseases [RCV003246703] Chr14:91999281 [GRCh38]
Chr14:92465625 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4800G>C (p.Leu1600Phe) single nucleotide variant Achondrogenesis, type IA [RCV001120488] Chr14:91999332 [GRCh38]
Chr14:92465676 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4712G>A (p.Arg1571His) single nucleotide variant Achondrogenesis, type IA [RCV002483613]|Achondrogenesis, type IA [RCV002532488]|not provided [RCV000593250] Chr14:91999420 [GRCh38]
Chr14:92465764 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5085C>T (p.Leu1695=) single nucleotide variant not provided [RCV000593601] Chr14:91993884 [GRCh38]
Chr14:92460228 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1159G>T (p.Val387Leu) single nucleotide variant not provided [RCV000591103] Chr14:92014242 [GRCh38]
Chr14:92480586 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2038G>T (p.Glu680Ter) single nucleotide variant Goldblatt syndrome [RCV000625982] Chr14:92005938 [GRCh38]
Chr14:92472282 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5202A>T (p.Ser1734=) single nucleotide variant Achondrogenesis, type IA [RCV001120186] Chr14:91988342 [GRCh38]
Chr14:92454686 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1952T>C (p.Val651Ala) single nucleotide variant Achondrogenesis, type IA [RCV001078613]|not provided [RCV000733957] Chr14:92006024 [GRCh38]
Chr14:92472368 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) single nucleotide variant Goldblatt syndrome [RCV000853511] Chr14:91975213 [GRCh38]
Chr14:92441557 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.1849GAG[2] (p.Glu619del) microsatellite Achondrogenesis, type IA [RCV002067173]|not specified [RCV000734782] Chr14:92006119..92006121 [GRCh38]
Chr14:92472463..92472465 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.660A>G (p.Glu220=) single nucleotide variant not provided [RCV000734784] Chr14:92015859 [GRCh38]
Chr14:92482203 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q11.2-32.33(chr14:19794561-107234280)x3 copy number gain See cases [RCV000446256] Chr14:19794561..107234280 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004239.4(TRIP11):c.5057-9T>G single nucleotide variant Achondrogenesis, type IA [RCV000963313]|not specified [RCV000438297] Chr14:91993921 [GRCh38]
Chr14:92460265 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) single nucleotide variant Achondrogenesis, type IA [RCV002058940]|not specified [RCV000424576] Chr14:92003476 [GRCh38]
Chr14:92469820 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5056+11C>T single nucleotide variant Achondrogenesis, type IA [RCV001120486]|not specified [RCV000442484] Chr14:91995341 [GRCh38]
Chr14:92461685 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.3264A>G (p.Gln1088=) single nucleotide variant Achondrogenesis, type IA [RCV002062791]|not specified [RCV000428500] Chr14:92004712 [GRCh38]
Chr14:92471056 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2305C>G (p.Gln769Glu) single nucleotide variant not provided [RCV000438992] Chr14:92005671 [GRCh38]
Chr14:92472015 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) single nucleotide variant Achondrogenesis, type IA [RCV000962347]|not provided [RCV003114543]|not specified [RCV000435877] Chr14:92004118 [GRCh38]
Chr14:92470462 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.217A>G (p.Lys73Glu) single nucleotide variant Achondrogenesis, type IA [RCV000883328]|not provided [RCV001696839] Chr14:92025405 [GRCh38]
Chr14:92491749 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) single nucleotide variant Achondrogenesis, type IA [RCV000953690]|not provided [RCV001704517] Chr14:92021652 [GRCh38]
Chr14:92487996 [GRCh37]
Chr14:14q32.12
benign|likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 14q23.2-32.33(chr14:62493932-107285437)x3 copy number gain See cases [RCV000448557] Chr14:62493932..107285437 [GRCh37]
Chr14:14q23.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:20511673-107285437) copy number gain See cases [RCV000512041] Chr14:20511673..107285437 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) single nucleotide variant Achondrogenesis, type IA [RCV000755411]|Connective tissue disorder [RCV002279294]|not provided [RCV001811010]|not specified [RCV000508420] Chr14:92007650 [GRCh38]
Chr14:92473994 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.203A>T (p.Asn68Ile) single nucleotide variant Inborn genetic diseases [RCV002524928]|not specified [RCV000506794] Chr14:92025419 [GRCh38]
Chr14:92491763 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5446G>A (p.Glu1816Lys) single nucleotide variant not specified [RCV000507312] Chr14:91975183 [GRCh38]
Chr14:92441527 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3871G>A (p.Val1291Ile) single nucleotide variant Achondrogenesis, type IA [RCV001117017]|not provided [RCV000507891] Chr14:92004105 [GRCh38]
Chr14:92470449 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) single nucleotide variant Achondrogenesis, type IA [RCV001089432]|Connective tissue disorder [RCV002279437]|not provided [RCV001811109]|not specified [RCV000601375] Chr14:91988298 [GRCh38]
Chr14:92454642 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) single nucleotide variant Achondrogenesis, type IA [RCV001120674]|not specified [RCV000601478] Chr14:92015765 [GRCh38]
Chr14:92482109 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.5470G>A (p.Asp1824Asn) single nucleotide variant Achondrogenesis, type IA [RCV000538594] Chr14:91974731 [GRCh38]
Chr14:92441075 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1159G>A (p.Val387Met) single nucleotide variant Achondrogenesis, type IA [RCV000634171]|Inborn genetic diseases [RCV002533189]|not provided [RCV003318610] Chr14:92014242 [GRCh38]
Chr14:92480586 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1172A>C (p.Gln391Pro) single nucleotide variant Inborn genetic diseases [RCV003257601] Chr14:92014229 [GRCh38]
Chr14:92480573 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4405G>A (p.Val1469Met) single nucleotide variant Achondrogenesis, type IA [RCV001347327]|not provided [RCV000597430] Chr14:92003571 [GRCh38]
Chr14:92469915 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) single nucleotide variant Achondrogenesis, type IA [RCV001089383]|Connective tissue disorder [RCV002279434]|not provided [RCV000756812] Chr14:92004829 [GRCh38]
Chr14:92471173 [GRCh37]
Chr14:14q32.12
benign|likely benign
GRCh37/hg19 14q24.2-32.33(chr14:73750741-107285437)x3 copy number gain See cases [RCV000512497] Chr14:73750741..107285437 [GRCh37]
Chr14:14q24.2-32.33
pathogenic
NM_004239.4(TRIP11):c.4557+1G>T single nucleotide variant Goldblatt syndrome [RCV000625983] Chr14:92003418 [GRCh38]
Chr14:92469762 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) single nucleotide variant Achondrogenesis, type IA [RCV001088361]|Connective tissue disorder [RCV002279435]|not provided [RCV000756811] Chr14:92003812 [GRCh38]
Chr14:92470156 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.1547A>G (p.Asp516Gly) single nucleotide variant Achondrogenesis, type IA [RCV000634172] Chr14:92006429 [GRCh38]
Chr14:92472773 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) single nucleotide variant Achondrogenesis, type IA [RCV002060723] Chr14:91988375 [GRCh38]
Chr14:92454719 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2467_2470del (p.Arg823fs) microsatellite Achondrogenesis, type IA [RCV002534290]|not provided [RCV000658468] Chr14:92005506..92005509 [GRCh38]
Chr14:92471850..92471853 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.2735T>G (p.Ile912Ser) single nucleotide variant not provided [RCV000658386] Chr14:92005241 [GRCh38]
Chr14:92471585 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.2-32.2(chr14:84783137-96908198)x1 copy number loss not provided [RCV000683625] Chr14:84783137..96908198 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_004239.4(TRIP11):c.5149A>T (p.Ile1717Leu) single nucleotide variant Achondrogenesis, type IA [RCV000704268] Chr14:91993820 [GRCh38]
Chr14:92460164 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.617_618del (p.Asn205_Ser206insTer) microsatellite Achondrogenesis, type IA [RCV000704735] Chr14:92017721..92017722 [GRCh38]
Chr14:92484065..92484066 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2557C>T (p.Arg853Ter) single nucleotide variant Achondrogenesis, type IA [RCV000707638] Chr14:92005419 [GRCh38]
Chr14:92471763 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.3352_3353del (p.Glu1118fs) deletion Achondrogenesis, type IA [RCV000702579] Chr14:92004623..92004624 [GRCh38]
Chr14:92470967..92470968 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1280T>A (p.Leu427Ter) single nucleotide variant Achondrogenesis, type IA [RCV000693887] Chr14:92011020 [GRCh38]
Chr14:92477364 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1271T>G (p.Ile424Ser) single nucleotide variant Achondrogenesis, type IA [RCV000692866]|Inborn genetic diseases [RCV002532226] Chr14:92011029 [GRCh38]
Chr14:92477373 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1265T>C (p.Met422Thr) single nucleotide variant Achondrogenesis, type IA [RCV000687865] Chr14:92011035 [GRCh38]
Chr14:92477379 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5479G>T (p.Gly1827Cys) single nucleotide variant Achondrogenesis, type IA [RCV000707675] Chr14:91974722 [GRCh38]
Chr14:92441066 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2138C>A (p.Thr713Asn) single nucleotide variant Achondrogenesis, type IA [RCV000703252] Chr14:92005838 [GRCh38]
Chr14:92472182 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1315-191C>T single nucleotide variant not provided [RCV001567481] Chr14:92008043 [GRCh38]
Chr14:92474387 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5160+59A>G single nucleotide variant not provided [RCV001585905]|not specified [RCV001000361] Chr14:91993750 [GRCh38]
Chr14:92460094 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.2993_2994del (p.Lys998fs) deletion Goldblatt syndrome [RCV000757983] Chr14:92004982..92004983 [GRCh38]
Chr14:92471326..92471327 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) single nucleotide variant Goldblatt syndrome [RCV000853510] Chr14:92003442 [GRCh38]
Chr14:92469786 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.5056+223T>C single nucleotide variant not provided [RCV001546557] Chr14:91995129 [GRCh38]
Chr14:92461473 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2304_2307del (p.Asn768fs) microsatellite Achondrogenesis, type IA [RCV000757991] Chr14:92005669..92005672 [GRCh38]
Chr14:92472013..92472016 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.139+218A>G single nucleotide variant not provided [RCV001546185] Chr14:92039329 [GRCh38]
Chr14:92505673 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5575-182_5575-179dup duplication not provided [RCV001540518] Chr14:91973025..91973026 [GRCh38]
Chr14:92439369..92439370 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4815_4818del (p.Glu1606fs) microsatellite Goldblatt syndrome [RCV000757986] Chr14:91999314..91999317 [GRCh38]
Chr14:92465658..92465661 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2128_2129del (p.Ile710fs) deletion Achondrogenesis, type IA [RCV000757989]|Goldblatt syndrome [RCV000757988] Chr14:92005847..92005848 [GRCh38]
Chr14:92472191..92472192 [GRCh37]
Chr14:14q32.12
pathogenic
GRCh37/hg19 14q11.1-32.33(chr14:19000422-107289053)x3 copy number gain not provided [RCV000738412] Chr14:19000422..107289053 [GRCh37]
Chr14:14q11.1-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19280733-107287663)x3 copy number gain not provided [RCV000738413] Chr14:19280733..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
GRCh37/hg19 14q11.2-32.33(chr14:19327823-107287663)x3 copy number gain not provided [RCV000738414] Chr14:19327823..107287663 [GRCh37]
Chr14:14q11.2-32.33
pathogenic
NM_004239.4(TRIP11):c.5458-43del deletion not provided [RCV001608771] Chr14:91974786 [GRCh38]
Chr14:92441130 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1227+271del deletion not provided [RCV001609605] Chr14:92011484 [GRCh38]
Chr14:92477828 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5574+65C>G single nucleotide variant not provided [RCV001681331] Chr14:91974562 [GRCh38]
Chr14:92440906 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.586C>T (p.Gln196Ter) single nucleotide variant Achondrogenesis, type IA [RCV000778421]|Goldblatt syndrome [RCV000853509] Chr14:92021558 [GRCh38]
Chr14:92487902 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_004239.4(TRIP11):c.210G>A (p.Arg70=) single nucleotide variant Achondrogenesis, type IA [RCV001450787] Chr14:92025412 [GRCh38]
Chr14:92491756 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5260+24T>C single nucleotide variant Achondrogenesis, type IA [RCV001838680]|Goldblatt syndrome [RCV001838681]|not provided [RCV001535319] Chr14:91988260 [GRCh38]
Chr14:92454604 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5575-203G>A single nucleotide variant not provided [RCV001585458] Chr14:91973064 [GRCh38]
Chr14:92439408 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1622del (p.Lys541fs) deletion Goldblatt syndrome [RCV000757990] Chr14:92006354 [GRCh38]
Chr14:92472698 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) single nucleotide variant Goldblatt syndrome [RCV000853508] Chr14:92011072 [GRCh38]
Chr14:92477416 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.823+77C>G single nucleotide variant not provided [RCV001571195] Chr14:92015619 [GRCh38]
Chr14:92481963 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5160+310_5160+311dup duplication not provided [RCV001571287] Chr14:91993476..91993477 [GRCh38]
Chr14:92459820..92459821 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.202-97_202-96insGCG insertion not provided [RCV001550764] Chr14:92025516..92025517 [GRCh38]
Chr14:92491860..92491861 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5720-73A>G single nucleotide variant not provided [RCV001577033] Chr14:91969966 [GRCh38]
Chr14:92436310 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q31.3-32.13(chr14:88401076-94725706)x1 copy number loss not provided [RCV003312295] Chr14:88401076..94725706 [GRCh37]
Chr14:14q31.3-32.13
pathogenic
NM_004239.4(TRIP11):c.312+102del deletion not provided [RCV001580941] Chr14:92025208 [GRCh38]
Chr14:92491552 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.657+9A>C single nucleotide variant Achondrogenesis, type IA [RCV001115753] Chr14:92017673 [GRCh38]
Chr14:92484017 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1227+246dup duplication not provided [RCV001609262] Chr14:92011483..92011484 [GRCh38]
Chr14:92477827..92477828 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1315-296G>T single nucleotide variant not provided [RCV001567923] Chr14:92008148 [GRCh38]
Chr14:92474492 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4558-270G>A single nucleotide variant not provided [RCV001549696] Chr14:92000378 [GRCh38]
Chr14:92466722 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.140-214G>A single nucleotide variant not provided [RCV001644395] Chr14:92033467 [GRCh38]
Chr14:92499811 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4558-256A>G single nucleotide variant not provided [RCV001583229] Chr14:92000364 [GRCh38]
Chr14:92466708 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5239A>G (p.Ile1747Val) single nucleotide variant Achondrogenesis, type IA [RCV000885235] Chr14:91988305 [GRCh38]
Chr14:92454649 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2622A>G (p.Glu874=) single nucleotide variant not provided [RCV000925038] Chr14:92005354 [GRCh38]
Chr14:92471698 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2382C>T (p.Asp794=) single nucleotide variant Achondrogenesis, type IA [RCV000902723]|not provided [RCV003392684] Chr14:92005594 [GRCh38]
Chr14:92471938 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1146A>G (p.Ala382=) single nucleotide variant Achondrogenesis, type IA [RCV001120670]|not provided [RCV000880813] Chr14:92014255 [GRCh38]
Chr14:92480599 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.5160+55G>T single nucleotide variant not provided [RCV001643392] Chr14:91993754 [GRCh38]
Chr14:92460098 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5334A>G (p.Lys1778=) single nucleotide variant Achondrogenesis, type IA [RCV002067608]|not provided [RCV000995242] Chr14:91976116 [GRCh38]
Chr14:92442460 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.4967C>T (p.Ala1656Val) single nucleotide variant Achondrogenesis, type IA [RCV001043585] Chr14:91995441 [GRCh38]
Chr14:92461785 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3477del (p.Gln1160fs) deletion Achondrogenesis, type IA [RCV001051530] Chr14:92004499 [GRCh38]
Chr14:92470843 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5720-5T>G single nucleotide variant Achondrogenesis, type IA [RCV001037881] Chr14:91969898 [GRCh38]
Chr14:92436242 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.988_989del (p.Asp330fs) microsatellite Achondrogenesis, type IA [RCV000802803] Chr14:92014412..92014413 [GRCh38]
Chr14:92480756..92480757 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.140-259C>T single nucleotide variant not provided [RCV000826550] Chr14:92033512 [GRCh38]
Chr14:92499856 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.3370G>A (p.Asp1124Asn) single nucleotide variant Achondrogenesis, type IA [RCV000810999] Chr14:92004606 [GRCh38]
Chr14:92470950 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1938_1941del (p.Arg647fs) microsatellite Achondrogenesis, type IA [RCV000778420]|not provided [RCV001784384] Chr14:92006035..92006038 [GRCh38]
Chr14:92472379..92472382 [GRCh37]
Chr14:14q32.12
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.2226C>T (p.Thr742=) single nucleotide variant Achondrogenesis, type IA [RCV002068656] Chr14:92005750 [GRCh38]
Chr14:92472094 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3547T>C (p.Leu1183=) single nucleotide variant Achondrogenesis, type IA [RCV002540202] Chr14:92004429 [GRCh38]
Chr14:92470773 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.831T>G (p.Ser277=) single nucleotide variant not provided [RCV000917993] Chr14:92014570 [GRCh38]
Chr14:92480914 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4128G>T (p.Ser1376=) single nucleotide variant Achondrogenesis, type IA [RCV001117015] Chr14:92003848 [GRCh38]
Chr14:92470192 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.201+188A>C single nucleotide variant not provided [RCV000831336] Chr14:92033004 [GRCh38]
Chr14:92499348 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) single nucleotide variant Achondrogenesis, type IA [RCV001087116]|Connective tissue disorder [RCV002279560]|not provided [RCV000842240] Chr14:91995398 [GRCh38]
Chr14:92461742 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.61G>A (p.Gly21Ser) single nucleotide variant Achondrogenesis, type IA [RCV000795200]|Inborn genetic diseases [RCV002536996] Chr14:92039625 [GRCh38]
Chr14:92505969 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1187-59T>C single nucleotide variant not provided [RCV000834427] Chr14:92011854 [GRCh38]
Chr14:92478198 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4834_4837del (p.Lys1612fs) microsatellite Achondrogenesis, type IA [RCV000825550] Chr14:91999295..91999298 [GRCh38]
Chr14:92465639..92465642 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.4558-273A>G single nucleotide variant not provided [RCV000832344] Chr14:92000381 [GRCh38]
Chr14:92466725 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4130T>C (p.Ile1377Thr) single nucleotide variant Achondrogenesis, type IA [RCV000802753] Chr14:92003846 [GRCh38]
Chr14:92470190 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5160+195G>A single nucleotide variant not provided [RCV000826581] Chr14:91993614 [GRCh38]
Chr14:92459958 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1527+7C>G single nucleotide variant Achondrogenesis, type IA [RCV000891974] Chr14:92007633 [GRCh38]
Chr14:92473977 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3384C>T (p.Ala1128=) single nucleotide variant not provided [RCV000830430] Chr14:92004592 [GRCh38]
Chr14:92470936 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.2(TRIP11):c.-554A>G single nucleotide variant not provided [RCV000826532] Chr14:92040239 [GRCh38]
Chr14:92506583 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4698+201G>A single nucleotide variant not provided [RCV000826559] Chr14:91999767 [GRCh38]
Chr14:92466111 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4558-46GT[6] microsatellite not provided [RCV000835284] Chr14:92000141..92000142 [GRCh38]
Chr14:92466485..92466486 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4893-186G>A single nucleotide variant not provided [RCV000830436] Chr14:91995701 [GRCh38]
Chr14:92462045 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5056+287_5056+289del microsatellite not provided [RCV000826563] Chr14:91995063..91995065 [GRCh38]
Chr14:92461407..92461409 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2377A>G (p.Lys793Glu) single nucleotide variant Achondrogenesis, type IA [RCV000817635] Chr14:92005599 [GRCh38]
Chr14:92471943 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.223T>C (p.Cys75Arg) single nucleotide variant Achondrogenesis, type IA [RCV000824231]|Inborn genetic diseases [RCV003259000] Chr14:92025399 [GRCh38]
Chr14:92491743 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.139+291G>T single nucleotide variant not provided [RCV000826533] Chr14:92039256 [GRCh38]
Chr14:92505600 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4893-203G>A single nucleotide variant not provided [RCV000826561] Chr14:91995718 [GRCh38]
Chr14:92462062 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5630C>T (p.Pro1877Leu) single nucleotide variant Achondrogenesis, type IA [RCV001115487] Chr14:91972806 [GRCh38]
Chr14:92439150 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) single nucleotide variant Achondrogenesis, type IA [RCV001118737]|Inborn genetic diseases [RCV003283987] Chr14:92007735 [GRCh38]
Chr14:92474079 [GRCh37]
Chr14:14q32.12
benign|likely benign|uncertain significance
NM_004239.4(TRIP11):c.4206A>G (p.Gln1402=) single nucleotide variant Achondrogenesis, type IA [RCV001115581] Chr14:92003770 [GRCh38]
Chr14:92470114 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.2741A>C (p.His914Pro) single nucleotide variant Achondrogenesis, type IA [RCV001115670] Chr14:92005235 [GRCh38]
Chr14:92471579 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5469C>T (p.Asp1823=) single nucleotide variant Achondrogenesis, type IA [RCV001116904] Chr14:91974732 [GRCh38]
Chr14:92441076 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.824-126T>G single nucleotide variant not provided [RCV000826555] Chr14:92014703 [GRCh38]
Chr14:92481047 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5160+230del deletion not provided [RCV000826582] Chr14:91993579 [GRCh38]
Chr14:92459923 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.3413A>G (p.Asp1138Gly) single nucleotide variant Achondrogenesis, type IA [RCV001118645] Chr14:92004563 [GRCh38]
Chr14:92470907 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5449A>T (p.Met1817Leu) single nucleotide variant Achondrogenesis, type IA [RCV001116905] Chr14:91975180 [GRCh38]
Chr14:92441524 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1528-145T>C single nucleotide variant not provided [RCV000830429] Chr14:92006593 [GRCh38]
Chr14:92472937 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5889G>A (p.Ala1963=) single nucleotide variant Achondrogenesis, type IA [RCV001120382]|not provided [RCV000895196] Chr14:91969724 [GRCh38]
Chr14:92436068 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.140-251C>T single nucleotide variant not provided [RCV000826552] Chr14:92033504 [GRCh38]
Chr14:92499848 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.589-133A>G single nucleotide variant not provided [RCV000826553] Chr14:92017883 [GRCh38]
Chr14:92484227 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1314+162T>C single nucleotide variant not provided [RCV000826557] Chr14:92010824 [GRCh38]
Chr14:92477168 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5575-250G>A single nucleotide variant not provided [RCV000826583] Chr14:91973111 [GRCh38]
Chr14:92439455 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5719+314T>C single nucleotide variant not provided [RCV000826587] Chr14:91972403 [GRCh38]
Chr14:92438747 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2603A>G (p.Glu868Gly) single nucleotide variant Achondrogenesis, type IA [RCV000806460] Chr14:92005373 [GRCh38]
Chr14:92471717 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) single nucleotide variant Achondrogenesis, type IA [RCV001120188]|Connective tissue disorder [RCV002279562]|not provided [RCV000842729] Chr14:91993844 [GRCh38]
Chr14:92460188 [GRCh37]
Chr14:14q32.12
benign|likely benign
NM_004239.4(TRIP11):c.-349T>G single nucleotide variant Achondrogenesis, type IA [RCV001120773] Chr14:92040034 [GRCh38]
Chr14:92506378 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4388G>A (p.Gly1463Glu) single nucleotide variant Achondrogenesis, type IA [RCV001064905] Chr14:92003588 [GRCh38]
Chr14:92469932 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*162G>T single nucleotide variant Achondrogenesis, type IA [RCV001120380] Chr14:91969511 [GRCh38]
Chr14:92435855 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1663A>G (p.Lys555Glu) single nucleotide variant Achondrogenesis, type IA [RCV001118736] Chr14:92006313 [GRCh38]
Chr14:92472657 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*749G>A single nucleotide variant Achondrogenesis, type IA [RCV001115392] Chr14:91968924 [GRCh38]
Chr14:92435268 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5657T>C (p.Met1886Thr) single nucleotide variant Achondrogenesis, type IA [RCV001115486]|not provided [RCV001811664] Chr14:91972779 [GRCh38]
Chr14:92439123 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*297A>G single nucleotide variant Achondrogenesis, type IA [RCV001120070] Chr14:91969376 [GRCh38]
Chr14:92435720 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*288C>A single nucleotide variant Achondrogenesis, type IA [RCV001120071]|not provided [RCV001558896] Chr14:91969385 [GRCh38]
Chr14:92435729 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.*273A>C single nucleotide variant Achondrogenesis, type IA [RCV001120072] Chr14:91969400 [GRCh38]
Chr14:92435744 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4205A>G (p.Gln1402Arg) single nucleotide variant Achondrogenesis, type IA [RCV001043584] Chr14:92003771 [GRCh38]
Chr14:92470115 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4726C>T (p.Arg1576Cys) single nucleotide variant Achondrogenesis, type IA [RCV001233425]|Goldblatt syndrome [RCV003448379] Chr14:91999406 [GRCh38]
Chr14:92465750 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4330G>C (p.Val1444Leu) single nucleotide variant Achondrogenesis, type IA [RCV001223520] Chr14:92003646 [GRCh38]
Chr14:92469990 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1937A>G (p.Glu646Gly) single nucleotide variant Achondrogenesis, type IA [RCV001242209]|Inborn genetic diseases [RCV003294136] Chr14:92006039 [GRCh38]
Chr14:92472383 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4127C>A (p.Ser1376Ter) single nucleotide variant Achondrogenesis, type IA [RCV000853520] Chr14:92003849 [GRCh38]
Chr14:92470193 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.3478C>T (p.Gln1160Ter) single nucleotide variant Achondrogenesis, type IA [RCV000853512] Chr14:92004498 [GRCh38]
Chr14:92470842 [GRCh37]
Chr14:14q32.12
pathogenic
GRCh37/hg19 14q32.12-32.33(chr14:91969028-107285437)x3 copy number gain not provided [RCV000848687] Chr14:91969028..107285437 [GRCh37]
Chr14:14q32.12-32.33
pathogenic
NM_004239.4(TRIP11):c.1715A>G (p.Asn572Ser) single nucleotide variant Achondrogenesis, type IA [RCV001118735] Chr14:92006261 [GRCh38]
Chr14:92472605 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.-98C>T single nucleotide variant Achondrogenesis, type IA [RCV001118814] Chr14:92039783 [GRCh38]
Chr14:92506127 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1935A>G (p.Lys645=) single nucleotide variant Achondrogenesis, type IA [RCV001117092] Chr14:92006041 [GRCh38]
Chr14:92472385 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1897C>A (p.Gln633Lys) single nucleotide variant Achondrogenesis, type IA [RCV001117093]|Inborn genetic diseases [RCV003259101] Chr14:92006079 [GRCh38]
Chr14:92472423 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5885C>T (p.Pro1962Leu) single nucleotide variant Achondrogenesis, type IA [RCV003106471] Chr14:91969728 [GRCh38]
Chr14:92436072 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5343-314T>C single nucleotide variant Goldblatt syndrome [RCV003232035] Chr14:91975600 [GRCh38]
Chr14:92441944 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2395A>G (p.Ser799Gly) single nucleotide variant Autism spectrum disorder [RCV003127263] Chr14:92005581 [GRCh38]
Chr14:92471925 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5056+90G>A single nucleotide variant not provided [RCV001576034] Chr14:91995262 [GRCh38]
Chr14:92461606 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1589G>A (p.Ser530Asn) single nucleotide variant Achondrogenesis, type IA [RCV002072031]|not provided [RCV001550030] Chr14:92006387 [GRCh38]
Chr14:92472731 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity
NM_004239.4(TRIP11):c.4893-229A>C single nucleotide variant not provided [RCV001581510] Chr14:91995744 [GRCh38]
Chr14:92462088 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1228-116T>A single nucleotide variant not provided [RCV001548588] Chr14:92011188 [GRCh38]
Chr14:92477532 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.877dup (p.Thr293fs) duplication Achondrogenesis, type IA [RCV003106837] Chr14:92014523..92014524 [GRCh38]
Chr14:92480867..92480868 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5575-182dup duplication not provided [RCV001650616] Chr14:91973025..91973026 [GRCh38]
Chr14:92439369..92439370 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5720-279A>G single nucleotide variant not provided [RCV001610234] Chr14:91970172 [GRCh38]
Chr14:92436516 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5342+75A>G single nucleotide variant not provided [RCV001555068] Chr14:91976033 [GRCh38]
Chr14:92442377 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4893-213C>T single nucleotide variant not provided [RCV001555534] Chr14:91995728 [GRCh38]
Chr14:92462072 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5261-211T>A single nucleotide variant not provided [RCV001560887] Chr14:91976400 [GRCh38]
Chr14:92442744 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5574+85T>A single nucleotide variant not provided [RCV001715773] Chr14:91974542 [GRCh38]
Chr14:92440886 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.589-299C>T single nucleotide variant not provided [RCV001561385] Chr14:92018049 [GRCh38]
Chr14:92484393 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5720-72_5720-69dup duplication not provided [RCV001598582] Chr14:91969961..91969962 [GRCh38]
Chr14:92436305..92436306 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5575-165del deletion not provided [RCV001684989] Chr14:91973026 [GRCh38]
Chr14:92439370 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1187-218_1187-217del deletion not provided [RCV001696119] Chr14:92012012..92012013 [GRCh38]
Chr14:92478356..92478357 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5574+86A>T single nucleotide variant not provided [RCV001715956] Chr14:91974541 [GRCh38]
Chr14:92440885 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4558-46GT[8] microsatellite not provided [RCV001716077] Chr14:92000140..92000141 [GRCh38]
Chr14:92466484..92466485 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1186+48T>G single nucleotide variant not provided [RCV001716078] Chr14:92014167 [GRCh38]
Chr14:92480511 [GRCh37]
Chr14:14q32.12
benign
NC_000014.9:g.92040353G>A single nucleotide variant not provided [RCV001562518] Chr14:92040353 [GRCh38]
Chr14:92506697 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4557+297T>C single nucleotide variant not provided [RCV001615813] Chr14:92003122 [GRCh38]
Chr14:92469466 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4558-187A>G single nucleotide variant not provided [RCV001589388] Chr14:92000295 [GRCh38]
Chr14:92466639 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5343-136A>G single nucleotide variant not provided [RCV001667491] Chr14:91975422 [GRCh38]
Chr14:92441766 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.202-79G>A single nucleotide variant not provided [RCV001586617] Chr14:92025499 [GRCh38]
Chr14:92491843 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5575-64T>G single nucleotide variant not provided [RCV001587881] Chr14:91972925 [GRCh38]
Chr14:92439269 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1227+36A>G single nucleotide variant not provided [RCV001590817] Chr14:92011719 [GRCh38]
Chr14:92478063 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.823+204G>A single nucleotide variant not provided [RCV001546572] Chr14:92015492 [GRCh38]
Chr14:92481836 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5161-21T>A single nucleotide variant not provided [RCV001686466] Chr14:91988404 [GRCh38]
Chr14:92454748 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.201+27T>C single nucleotide variant not provided [RCV001559415] Chr14:92033165 [GRCh38]
Chr14:92499509 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5719+261C>A single nucleotide variant not provided [RCV001559747] Chr14:91972456 [GRCh38]
Chr14:92438800 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5057-146G>A single nucleotide variant not provided [RCV001684051] Chr14:91994058 [GRCh38]
Chr14:92460402 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.3962T>A (p.Leu1321Ter) single nucleotide variant Achondrogenesis, type IA [RCV000853519]|not provided [RCV001597222] Chr14:92004014 [GRCh38]
Chr14:92470358 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.3671G>A (p.Trp1224Ter) single nucleotide variant Achondrogenesis, type IA [RCV000853513] Chr14:92004305 [GRCh38]
Chr14:92470649 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.189C>T (p.Ile63=) single nucleotide variant not provided [RCV000920022] Chr14:92033204 [GRCh38]
Chr14:92499548 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4608G>A (p.Gln1536=) single nucleotide variant Achondrogenesis, type IA [RCV002540773] Chr14:92000058 [GRCh38]
Chr14:92466402 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.477C>T (p.Asp159=) single nucleotide variant Achondrogenesis, type IA [RCV001115755] Chr14:92021667 [GRCh38]
Chr14:92488011 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.4069C>A (p.Gln1357Lys) single nucleotide variant Achondrogenesis, type IA [RCV000888578]|not provided [RCV001593124] Chr14:92003907 [GRCh38]
Chr14:92470251 [GRCh37]
Chr14:14q32.12
likely benign|conflicting interpretations of pathogenicity
NM_004239.4(TRIP11):c.3078A>G (p.Lys1026=) single nucleotide variant Achondrogenesis, type IA [RCV001448755] Chr14:92004898 [GRCh38]
Chr14:92471242 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4557+243T>G single nucleotide variant not provided [RCV001537462] Chr14:92003176 [GRCh38]
Chr14:92469520 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1312A>G (p.Lys438Glu) single nucleotide variant Achondrogenesis, type IA [RCV001223435] Chr14:92010988 [GRCh38]
Chr14:92477332 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*1185G>A single nucleotide variant Achondrogenesis, type IA [RCV001120279] Chr14:91968488 [GRCh38]
Chr14:92434832 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*938A>G single nucleotide variant Achondrogenesis, type IA [RCV001115391] Chr14:91968735 [GRCh38]
Chr14:92435079 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*664C>T single nucleotide variant Achondrogenesis, type IA [RCV001115393] Chr14:91969009 [GRCh38]
Chr14:92435353 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5607A>G (p.Glu1869=) single nucleotide variant Achondrogenesis, type IA [RCV001115488] Chr14:91972829 [GRCh38]
Chr14:92439173 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.506C>T (p.Ser169Leu) single nucleotide variant Achondrogenesis, type IA [RCV001115754] Chr14:92021638 [GRCh38]
Chr14:92487982 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.824-15G>C single nucleotide variant Achondrogenesis, type IA [RCV001120673] Chr14:92014592 [GRCh38]
Chr14:92480936 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4062A>C (p.Lys1354Asn) single nucleotide variant Achondrogenesis, type IA [RCV001117016] Chr14:92003914 [GRCh38]
Chr14:92470258 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.202-11T>G single nucleotide variant Achondrogenesis, type IA [RCV001117187] Chr14:92025431 [GRCh38]
Chr14:92491775 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.3880A>G (p.Ser1294Gly) single nucleotide variant Achondrogenesis, type IA [RCV001243899] Chr14:92004096 [GRCh38]
Chr14:92470440 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.81dup (p.Gly28fs) duplication Achondrogenesis, type IA [RCV001244068] Chr14:92039604..92039605 [GRCh38]
Chr14:92505948..92505949 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1493A>T (p.Glu498Val) single nucleotide variant Achondrogenesis, type IA [RCV001228094] Chr14:92007674 [GRCh38]
Chr14:92474018 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3759T>G (p.Val1253=) single nucleotide variant not provided [RCV000913614] Chr14:92004217 [GRCh38]
Chr14:92470561 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.783T>C (p.Tyr261=) single nucleotide variant Achondrogenesis, type IA [RCV000911224] Chr14:92015736 [GRCh38]
Chr14:92482080 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.42G>A (p.Gln14=) single nucleotide variant Achondrogenesis, type IA [RCV001478177] Chr14:92039644 [GRCh38]
Chr14:92505988 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4722A>G (p.Glu1574=) single nucleotide variant not provided [RCV000912995] Chr14:91999410 [GRCh38]
Chr14:92465754 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5720-70_5720-69insTATG insertion not provided [RCV001541236] Chr14:91969962..91969963 [GRCh38]
Chr14:92436306..92436307 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.588+166_588+167del deletion not provided [RCV001656660] Chr14:92021389..92021390 [GRCh38]
Chr14:92487733..92487734 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.202-96_202-95insT insertion not provided [RCV001718452] Chr14:92025515..92025516 [GRCh38]
Chr14:92491859..92491860 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1528-212C>G single nucleotide variant not provided [RCV001562404] Chr14:92006660 [GRCh38]
Chr14:92473004 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5056+198T>G single nucleotide variant not provided [RCV001562483] Chr14:91995154 [GRCh38]
Chr14:92461498 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5720-289C>T single nucleotide variant not provided [RCV001567302] Chr14:91970182 [GRCh38]
Chr14:92436526 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1227+169A>T single nucleotide variant not provided [RCV001551414] Chr14:92011586 [GRCh38]
Chr14:92477930 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5574+85_5574+86insG insertion not provided [RCV001562819] Chr14:91974541..91974542 [GRCh38]
Chr14:92440885..92440886 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1227+309C>T single nucleotide variant not provided [RCV001562893] Chr14:92011446 [GRCh38]
Chr14:92477790 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5574+232A>G single nucleotide variant not provided [RCV001558553] Chr14:91974395 [GRCh38]
Chr14:92440739 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1315-234G>A single nucleotide variant not provided [RCV001552508] Chr14:92008086 [GRCh38]
Chr14:92474430 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5057-48T>C single nucleotide variant not provided [RCV001581943] Chr14:91993960 [GRCh38]
Chr14:92460304 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5458-190G>A single nucleotide variant not provided [RCV001655986] Chr14:91974933 [GRCh38]
Chr14:92441277 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2871C>G (p.Leu957=) single nucleotide variant not provided [RCV001552800] Chr14:92005105 [GRCh38]
Chr14:92471449 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q31.2-32.33(chr14:84537502-107285437)x3 copy number gain not provided [RCV002472581] Chr14:84537502..107285437 [GRCh37]
Chr14:14q31.2-32.33
pathogenic
NM_004239.4(TRIP11):c.5720-26G>A single nucleotide variant not provided [RCV001593940] Chr14:91969919 [GRCh38]
Chr14:92436263 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.948A>C (p.Lys316Asn) single nucleotide variant Connective tissue disorder [RCV002276780]|not provided [RCV001553122] Chr14:92014453 [GRCh38]
Chr14:92480797 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5575-182_5575-181dup duplication not provided [RCV001553337] Chr14:91973025..91973026 [GRCh38]
Chr14:92439369..92439370 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4892+265C>G single nucleotide variant not provided [RCV001555301] Chr14:91998975 [GRCh38]
Chr14:92465319 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5575-321G>A single nucleotide variant not provided [RCV001560727] Chr14:91973182 [GRCh38]
Chr14:92439526 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.658-311T>A single nucleotide variant not provided [RCV001596721] Chr14:92016172 [GRCh38]
Chr14:92482516 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5260+178C>T single nucleotide variant not provided [RCV001569182] Chr14:91988106 [GRCh38]
Chr14:92454450 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4893-63CTT[2] microsatellite not provided [RCV001556470] Chr14:91995570..91995572 [GRCh38]
Chr14:92461914..92461916 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5269C>T (p.Arg1757Ter) single nucleotide variant Achondrogenesis, type IA [RCV002471392] Chr14:91976181 [GRCh38]
Chr14:92442525 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.824-21T>G single nucleotide variant not provided [RCV001619488] Chr14:92014598 [GRCh38]
Chr14:92480942 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1314+86T>C single nucleotide variant not provided [RCV001593820] Chr14:92010900 [GRCh38]
Chr14:92477244 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5575-223C>T single nucleotide variant not provided [RCV001593969] Chr14:91973084 [GRCh38]
Chr14:92439428 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5719+148_5719+168del microsatellite not provided [RCV001589554] Chr14:91972549..91972569 [GRCh38]
Chr14:92438893..92438913 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.823+111C>T single nucleotide variant not provided [RCV001696588] Chr14:92015585 [GRCh38]
Chr14:92481929 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5342+193G>A single nucleotide variant not provided [RCV001598045] Chr14:91975915 [GRCh38]
Chr14:92442259 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5160+332del deletion not provided [RCV001670523] Chr14:91993477 [GRCh38]
Chr14:92459821 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4557+320G>A single nucleotide variant not provided [RCV001588128] Chr14:92003099 [GRCh38]
Chr14:92469443 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4893-105del deletion not provided [RCV001678218] Chr14:91995620 [GRCh38]
Chr14:92461964 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.658-49A>G single nucleotide variant not provided [RCV001595243] Chr14:92015910 [GRCh38]
Chr14:92482254 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4892+238T>C single nucleotide variant not provided [RCV001659035] Chr14:91999002 [GRCh38]
Chr14:92465346 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.*1591G>T single nucleotide variant Achondrogenesis, type IA [RCV001119979] Chr14:91968082 [GRCh38]
Chr14:92434426 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*1212C>T single nucleotide variant Achondrogenesis, type IA [RCV001120278] Chr14:91968461 [GRCh38]
Chr14:92434805 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3120A>G (p.Ile1040Met) single nucleotide variant Achondrogenesis, type IA [RCV001120587]|Inborn genetic diseases [RCV002556590] Chr14:92004856 [GRCh38]
Chr14:92471200 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.588+167del deletion not provided [RCV001667813] Chr14:92021389 [GRCh38]
Chr14:92487733 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5197G>A (p.Ala1733Thr) single nucleotide variant Achondrogenesis, type IA [RCV001120187] Chr14:91988347 [GRCh38]
Chr14:92454691 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5160+93del deletion not provided [RCV001567949] Chr14:91993716 [GRCh38]
Chr14:92460060 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.*1175C>G single nucleotide variant Achondrogenesis, type IA [RCV001120280] Chr14:91968498 [GRCh38]
Chr14:92434842 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*107C>T single nucleotide variant Achondrogenesis, type IA [RCV001120381] Chr14:91969566 [GRCh38]
Chr14:92435910 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5160+310dup duplication not provided [RCV001708474] Chr14:91993476..91993477 [GRCh38]
Chr14:92459820..92459821 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.589-173G>A single nucleotide variant not provided [RCV001586552] Chr14:92017923 [GRCh38]
Chr14:92484267 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q31.2-32.2(chr14:84783523-96907490)x1 copy number loss Deletion syndrome [RCV001004048] Chr14:84783523..96907490 [GRCh37]
Chr14:14q31.2-32.2
pathogenic
NM_004239.4(TRIP11):c.5720-343C>T single nucleotide variant not provided [RCV001667747] Chr14:91970236 [GRCh38]
Chr14:92436580 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5720-176A>G single nucleotide variant not provided [RCV001694276] Chr14:91970069 [GRCh38]
Chr14:92436413 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4893-264G>T single nucleotide variant not provided [RCV001692611] Chr14:91995779 [GRCh38]
Chr14:92462123 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5342+282T>A single nucleotide variant not provided [RCV001565746] Chr14:91975826 [GRCh38]
Chr14:92442170 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5574+24T>C single nucleotide variant not provided [RCV001685627] Chr14:91974603 [GRCh38]
Chr14:92440947 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1227+246_1227+247dup duplication not provided [RCV001713937] Chr14:92011483..92011484 [GRCh38]
Chr14:92477827..92477828 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.9C>T (p.Ser3=) single nucleotide variant Achondrogenesis, type IA [RCV001117188] Chr14:92039677 [GRCh38]
Chr14:92506021 [GRCh37]
Chr14:14q32.12
conflicting interpretations of pathogenicity|uncertain significance
NM_004239.4(TRIP11):c.1587C>T (p.Ile529=) single nucleotide variant Achondrogenesis, type IA [RCV001463973]|not specified [RCV001001074] Chr14:92006389 [GRCh38]
Chr14:92472733 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.*1521G>A single nucleotide variant Achondrogenesis, type IA [RCV001119980] Chr14:91968152 [GRCh38]
Chr14:92434496 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4760A>G (p.His1587Arg) single nucleotide variant Achondrogenesis, type IA [RCV001120489] Chr14:91999372 [GRCh38]
Chr14:92465716 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.998G>A (p.Arg333Lys) single nucleotide variant Achondrogenesis, type IA [RCV001120671] Chr14:92014403 [GRCh38]
Chr14:92480747 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.*387C>A single nucleotide variant Achondrogenesis, type IA [RCV001118543] Chr14:91969286 [GRCh38]
Chr14:92435630 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.3743A>G (p.Gln1248Arg) single nucleotide variant Achondrogenesis, type IA [RCV001118644]|Inborn genetic diseases [RCV003259103] Chr14:92004233 [GRCh38]
Chr14:92470577 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4649T>C (p.Met1550Thr) single nucleotide variant Achondrogenesis, type IA [RCV001115580] Chr14:92000017 [GRCh38]
Chr14:92466361 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3380C>T (p.Ala1127Val) single nucleotide variant Achondrogenesis, type IA [RCV001242515]|Inborn genetic diseases [RCV002549133]|not specified [RCV001000427] Chr14:92004596 [GRCh38]
Chr14:92470940 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.586C>G (p.Gln196Glu) single nucleotide variant Achondrogenesis, type IA [RCV001964459] Chr14:92021558 [GRCh38]
Chr14:92487902 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5645C>A (p.Ser1882Tyr) single nucleotide variant not provided [RCV001810571] Chr14:91972791 [GRCh38]
Chr14:92439135 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5719+260T>A single nucleotide variant not provided [RCV001580839] Chr14:91972457 [GRCh38]
Chr14:92438801 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1314+214G>A single nucleotide variant not provided [RCV001565065] Chr14:92010772 [GRCh38]
Chr14:92477116 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4390G>A (p.Glu1464Lys) single nucleotide variant Achondrogenesis, type IA [RCV001316838] Chr14:92003586 [GRCh38]
Chr14:92469930 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.280A>G (p.Thr94Ala) single nucleotide variant Achondrogenesis, type IA [RCV001350815] Chr14:92025342 [GRCh38]
Chr14:92491686 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.202-4C>G single nucleotide variant Achondrogenesis, type IA [RCV001395772] Chr14:92025424 [GRCh38]
Chr14:92491768 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5574+218G>A single nucleotide variant not provided [RCV001527841] Chr14:91974409 [GRCh38]
Chr14:92440753 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3891G>C (p.Gln1297His) single nucleotide variant Achondrogenesis, type IA [RCV001329832] Chr14:92004085 [GRCh38]
Chr14:92470429 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4558-18A>C single nucleotide variant not provided [RCV001812290] Chr14:92000126 [GRCh38]
Chr14:92466470 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3595G>A (p.Val1199Ile) single nucleotide variant Achondrogenesis, type IA [RCV001300277] Chr14:92004381 [GRCh38]
Chr14:92470725 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5359C>T (p.Leu1787Phe) single nucleotide variant Achondrogenesis, type IA [RCV001323122] Chr14:91975270 [GRCh38]
Chr14:92441614 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3215A>G (p.His1072Arg) single nucleotide variant Achondrogenesis, type IA [RCV001372760]|Inborn genetic diseases [RCV002550925] Chr14:92004761 [GRCh38]
Chr14:92471105 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3431C>T (p.Ser1144Phe) single nucleotide variant Achondrogenesis, type IA [RCV001345363] Chr14:92004545 [GRCh38]
Chr14:92470889 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4159_4161del (p.Glu1387del) deletion Achondrogenesis, type IA [RCV001300940] Chr14:92003815..92003817 [GRCh38]
Chr14:92470159..92470161 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.389C>A (p.Ser130Ter) single nucleotide variant Achondrogenesis, type IA [RCV001331175] Chr14:92021755 [GRCh38]
Chr14:92488099 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1934_1939del (p.Lys645_Glu646del) deletion Achondrogenesis, type IA [RCV001370741] Chr14:92006037..92006042 [GRCh38]
Chr14:92472381..92472386 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2611C>T (p.Arg871Ter) single nucleotide variant Achondrogenesis, type IA [RCV001329831] Chr14:92005365 [GRCh38]
Chr14:92471709 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.3161T>G (p.Val1054Gly) single nucleotide variant Achondrogenesis, type IA [RCV001340127] Chr14:92004815 [GRCh38]
Chr14:92471159 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3401T>C (p.Ile1134Thr) single nucleotide variant Achondrogenesis, type IA [RCV001314050] Chr14:92004575 [GRCh38]
Chr14:92470919 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.111G>A (p.Met37Ile) single nucleotide variant not provided [RCV001812503] Chr14:92039575 [GRCh38]
Chr14:92505919 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3082C>T (p.Arg1028Ter) single nucleotide variant Achondrogenesis, type IA [RCV001449731] Chr14:92004894 [GRCh38]
Chr14:92471238 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.2314G>A (p.Asp772Asn) single nucleotide variant Achondrogenesis, type IA [RCV001307053] Chr14:92005662 [GRCh38]
Chr14:92472006 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1661del (p.Thr554fs) deletion Achondrogenesis, type IA [RCV001333211] Chr14:92006315 [GRCh38]
Chr14:92472659 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2916T>C (p.Ile972=) single nucleotide variant Achondrogenesis, type IA [RCV001494332] Chr14:92005060 [GRCh38]
Chr14:92471404 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2004A>T (p.Leu668Phe) single nucleotide variant Achondrogenesis, type IA [RCV001359719] Chr14:92005972 [GRCh38]
Chr14:92472316 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1568A>G (p.Asn523Ser) single nucleotide variant Achondrogenesis, type IA [RCV001450747] Chr14:92006408 [GRCh38]
Chr14:92472752 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5124C>T (p.Asn1708=) single nucleotide variant Achondrogenesis, type IA [RCV001457776] Chr14:91993845 [GRCh38]
Chr14:92460189 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3327T>C (p.Thr1109=) single nucleotide variant Achondrogenesis, type IA [RCV001401657] Chr14:92004649 [GRCh38]
Chr14:92470993 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5457+81T>A single nucleotide variant Achondrogenesis, type IA [RCV001420138] Chr14:91975091 [GRCh38]
Chr14:92441435 [GRCh37]
Chr14:14q32.12
pathogenic|uncertain significance
NM_004239.4(TRIP11):c.2595G>A (p.Leu865=) single nucleotide variant Achondrogenesis, type IA [RCV001423590] Chr14:92005381 [GRCh38]
Chr14:92471725 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.618T>C (p.Ser206=) single nucleotide variant Achondrogenesis, type IA [RCV001445105] Chr14:92017721 [GRCh38]
Chr14:92484065 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5458-55dup duplication not provided [RCV001666833] Chr14:91974785..91974786 [GRCh38]
Chr14:92441129..92441130 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1314+256G>C single nucleotide variant not provided [RCV001589332] Chr14:92010730 [GRCh38]
Chr14:92477074 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1527+41A>G single nucleotide variant Achondrogenesis, type IA [RCV001838748]|Goldblatt syndrome [RCV001838749]|not provided [RCV001674395] Chr14:92007599 [GRCh38]
Chr14:92473943 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.658-276T>C single nucleotide variant not provided [RCV001589680] Chr14:92016137 [GRCh38]
Chr14:92482481 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.202-89A>G single nucleotide variant not provided [RCV001654689] Chr14:92025509 [GRCh38]
Chr14:92491853 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1227+259_1227+271del deletion not provided [RCV001669560] Chr14:92011484..92011496 [GRCh38]
Chr14:92477828..92477840 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5719+181C>T single nucleotide variant not provided [RCV001587061] Chr14:91972536 [GRCh38]
Chr14:92438880 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.823+83C>T single nucleotide variant not provided [RCV001589751] Chr14:92015613 [GRCh38]
Chr14:92481957 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.823+30A>T single nucleotide variant not provided [RCV001674980] Chr14:92015666 [GRCh38]
Chr14:92482010 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1228-246G>A single nucleotide variant not provided [RCV001539938] Chr14:92011318 [GRCh38]
Chr14:92477662 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4968G>A (p.Ala1656=) single nucleotide variant Achondrogenesis, type IA [RCV001499885] Chr14:91995440 [GRCh38]
Chr14:92461784 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5007T>C (p.Tyr1669=) single nucleotide variant Achondrogenesis, type IA [RCV001499506] Chr14:91995401 [GRCh38]
Chr14:92461745 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.321C>T (p.Ile107=) single nucleotide variant Achondrogenesis, type IA [RCV002077203]|not provided [RCV001769898] Chr14:92021823 [GRCh38]
Chr14:92488167 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.202-92_202-90dup duplication not provided [RCV001762820] Chr14:92025509..92025510 [GRCh38]
Chr14:92491853..92491854 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4614G>C (p.Lys1538Asn) single nucleotide variant not provided [RCV001766290] Chr14:92000052 [GRCh38]
Chr14:92466396 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2008_2011del (p.Lys670fs) microsatellite not provided [RCV001785088] Chr14:92005965..92005968 [GRCh38]
Chr14:92472309..92472312 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1240G>T (p.Ala414Ser) single nucleotide variant not provided [RCV001811884] Chr14:92011060 [GRCh38]
Chr14:92477404 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.969T>G (p.Ser323=) single nucleotide variant not provided [RCV001812597] Chr14:92014432 [GRCh38]
Chr14:92480776 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3817A>C (p.Ser1273Arg) single nucleotide variant not provided [RCV001812606] Chr14:92004159 [GRCh38]
Chr14:92470503 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2949_2952del (p.Gln984fs) deletion Connective tissue disorder [RCV002276894] Chr14:92005024..92005027 [GRCh38]
Chr14:92471368..92471371 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.588+2T>C single nucleotide variant Achondrogenesis, type IA [RCV001885171] Chr14:92021554 [GRCh38]
Chr14:92487898 [GRCh37]
Chr14:14q32.12
pathogenic|likely pathogenic
NM_004239.4(TRIP11):c.5068A>G (p.Met1690Val) single nucleotide variant Achondrogenesis, type IA [RCV002542333]|not provided [RCV001810811] Chr14:91993901 [GRCh38]
Chr14:92460245 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2015C>T (p.Ala672Val) single nucleotide variant Achondrogenesis, type IA [RCV001896697] Chr14:92005961 [GRCh38]
Chr14:92472305 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4692G>C (p.Gln1564His) single nucleotide variant Achondrogenesis, type IA [RCV001987678] Chr14:91999974 [GRCh38]
Chr14:92466318 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5434G>A (p.Val1812Ile) single nucleotide variant Achondrogenesis, type IA [RCV001913602]|not provided [RCV003136297] Chr14:91975195 [GRCh38]
Chr14:92441539 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1107_1108dup (p.Thr370fs) duplication Achondrogenesis, type IA [RCV001822984] Chr14:92014292..92014293 [GRCh38]
Chr14:92480636..92480637 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.3514G>A (p.Glu1172Lys) single nucleotide variant Achondrogenesis, type IA [RCV001891316]|Inborn genetic diseases [RCV003247114] Chr14:92004462 [GRCh38]
Chr14:92470806 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2720A>G (p.His907Arg) single nucleotide variant Achondrogenesis, type IA [RCV001874128] Chr14:92005256 [GRCh38]
Chr14:92471600 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.4019A>C (p.Glu1340Ala) single nucleotide variant Achondrogenesis, type IA [RCV001929594]|Inborn genetic diseases [RCV003289245] Chr14:92003957 [GRCh38]
Chr14:92470301 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1153G>A (p.Glu385Lys) single nucleotide variant Achondrogenesis, type IA [RCV001966601] Chr14:92014248 [GRCh38]
Chr14:92480592 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2123dup (p.Asn708fs) duplication Achondrogenesis, type IA [RCV002044703] Chr14:92005852..92005853 [GRCh38]
Chr14:92472196..92472197 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.3910C>A (p.Leu1304Ile) single nucleotide variant Achondrogenesis, type IA [RCV001896068] Chr14:92004066 [GRCh38]
Chr14:92470410 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5420G>T (p.Gly1807Val) single nucleotide variant Achondrogenesis, type IA [RCV001844308] Chr14:91975209 [GRCh38]
Chr14:92441553 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1409A>G (p.His470Arg) single nucleotide variant Achondrogenesis, type IA [RCV001928464] Chr14:92007758 [GRCh38]
Chr14:92474102 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5161-3C>G single nucleotide variant Achondrogenesis, type IA [RCV001910838] Chr14:91988386 [GRCh38]
Chr14:92454730 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1987dup (p.Gln663fs) duplication Achondrogenesis, type IA [RCV002007149] Chr14:92005988..92005989 [GRCh38]
Chr14:92472332..92472333 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2043G>T (p.Lys681Asn) single nucleotide variant Achondrogenesis, type IA [RCV001874922] Chr14:92005933 [GRCh38]
Chr14:92472277 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1272C>T (p.Ile424=) single nucleotide variant Achondrogenesis, type IA [RCV001913475] Chr14:92011028 [GRCh38]
Chr14:92477372 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.392T>A (p.Val131Glu) single nucleotide variant Achondrogenesis, type IA [RCV001987530] Chr14:92021752 [GRCh38]
Chr14:92488096 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2200G>A (p.Glu734Lys) single nucleotide variant Achondrogenesis, type IA [RCV001986026] Chr14:92005776 [GRCh38]
Chr14:92472120 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3233C>T (p.Thr1078Ile) single nucleotide variant Achondrogenesis, type IA [RCV001968215] Chr14:92004743 [GRCh38]
Chr14:92471087 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2276T>A (p.Leu759Gln) single nucleotide variant Achondrogenesis, type IA [RCV002006780] Chr14:92005700 [GRCh38]
Chr14:92472044 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.3-32.13(chr14:88345625-94773741) copy number loss not specified [RCV002053117] Chr14:88345625..94773741 [GRCh37]
Chr14:14q31.3-32.13
pathogenic
NM_004239.4(TRIP11):c.3631C>T (p.Arg1211Cys) single nucleotide variant Achondrogenesis, type IA [RCV001966785] Chr14:92004345 [GRCh38]
Chr14:92470689 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2909A>G (p.Lys970Arg) single nucleotide variant Achondrogenesis, type IA [RCV001911887] Chr14:92005067 [GRCh38]
Chr14:92471411 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5776C>T (p.Arg1926Cys) single nucleotide variant Achondrogenesis, type IA [RCV001987172] Chr14:91969837 [GRCh38]
Chr14:92436181 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4330G>A (p.Val1444Ile) single nucleotide variant Achondrogenesis, type IA [RCV001985098] Chr14:92003646 [GRCh38]
Chr14:92469990 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2609A>T (p.Glu870Val) single nucleotide variant Achondrogenesis, type IA [RCV001891006] Chr14:92005367 [GRCh38]
Chr14:92471711 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3821A>T (p.Tyr1274Phe) single nucleotide variant Achondrogenesis, type IA [RCV002043509] Chr14:92004155 [GRCh38]
Chr14:92470499 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2123del (p.Asn708fs) deletion Achondrogenesis, type IA [RCV001910868] Chr14:92005853 [GRCh38]
Chr14:92472197 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.774_777del (p.Ser259fs) deletion Achondrogenesis, type IA [RCV001910439] Chr14:92015742..92015745 [GRCh38]
Chr14:92482086..92482089 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.4459_4460del (p.Met1487fs) deletion Achondrogenesis, type IA [RCV001844307] Chr14:92003516..92003517 [GRCh38]
Chr14:92469860..92469861 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.3133C>A (p.Gln1045Lys) single nucleotide variant Achondrogenesis, type IA [RCV002042519] Chr14:92004843 [GRCh38]
Chr14:92471187 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2406G>T (p.Glu802Asp) single nucleotide variant Achondrogenesis, type IA [RCV001870875] Chr14:92005570 [GRCh38]
Chr14:92471914 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1066G>A (p.Glu356Lys) single nucleotide variant Achondrogenesis, type IA [RCV001895192] Chr14:92014335 [GRCh38]
Chr14:92480679 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.526C>T (p.Arg176Ter) single nucleotide variant Achondrogenesis, type IA [RCV001822983] Chr14:92021618 [GRCh38]
Chr14:92487962 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.763C>T (p.Arg255Ter) single nucleotide variant Achondrogenesis, type IA [RCV001844309] Chr14:92015756 [GRCh38]
Chr14:92482100 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5200T>C (p.Ser1734Pro) single nucleotide variant Achondrogenesis, type IA [RCV002022238] Chr14:91988344 [GRCh38]
Chr14:92454688 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5034G>A (p.Met1678Ile) single nucleotide variant Achondrogenesis, type IA [RCV001911666] Chr14:91995374 [GRCh38]
Chr14:92461718 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5307G>A (p.Met1769Ile) single nucleotide variant Achondrogenesis, type IA [RCV002005552] Chr14:91976143 [GRCh38]
Chr14:92442487 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5900A>G (p.Asn1967Ser) single nucleotide variant Achondrogenesis, type IA [RCV001969529]|Connective tissue disorder [RCV002276965] Chr14:91969713 [GRCh38]
Chr14:92436057 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.911C>T (p.Ser304Phe) single nucleotide variant Achondrogenesis, type IA [RCV001909837] Chr14:92014490 [GRCh38]
Chr14:92480834 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.331A>G (p.Lys111Glu) single nucleotide variant Achondrogenesis, type IA [RCV001983454] Chr14:92021813 [GRCh38]
Chr14:92488157 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2041A>G (p.Lys681Glu) single nucleotide variant Achondrogenesis, type IA [RCV001942631] Chr14:92005935 [GRCh38]
Chr14:92472279 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3281A>C (p.Tyr1094Ser) single nucleotide variant Achondrogenesis, type IA [RCV001962550] Chr14:92004695 [GRCh38]
Chr14:92471039 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4165G>A (p.Glu1389Lys) single nucleotide variant Achondrogenesis, type IA [RCV001953035] Chr14:92003811 [GRCh38]
Chr14:92470155 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2189A>G (p.Lys730Arg) single nucleotide variant Achondrogenesis, type IA [RCV001989816] Chr14:92005787 [GRCh38]
Chr14:92472131 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2129T>C (p.Ile710Thr) single nucleotide variant Achondrogenesis, type IA [RCV002038540] Chr14:92005847 [GRCh38]
Chr14:92472191 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5078C>T (p.Ala1693Val) single nucleotide variant Achondrogenesis, type IA [RCV001942708] Chr14:91993891 [GRCh38]
Chr14:92460235 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3821A>G (p.Tyr1274Cys) single nucleotide variant Achondrogenesis, type IA [RCV001996587] Chr14:92004155 [GRCh38]
Chr14:92470499 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3797A>G (p.Asp1266Gly) single nucleotide variant Achondrogenesis, type IA [RCV001886936] Chr14:92004179 [GRCh38]
Chr14:92470523 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2782C>T (p.Gln928Ter) single nucleotide variant Achondrogenesis, type IA [RCV001933103] Chr14:92005194 [GRCh38]
Chr14:92471538 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.633A>G (p.Ile211Met) single nucleotide variant Achondrogenesis, type IA [RCV001956854] Chr14:92017706 [GRCh38]
Chr14:92484050 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2433C>A (p.Asn811Lys) single nucleotide variant Achondrogenesis, type IA [RCV001992018] Chr14:92005543 [GRCh38]
Chr14:92471887 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2907A>G (p.Gln969=) single nucleotide variant Achondrogenesis, type IA [RCV001941679] Chr14:92005069 [GRCh38]
Chr14:92471413 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.922del (p.Met308fs) deletion Achondrogenesis, type IA [RCV001951419] Chr14:92014479 [GRCh38]
Chr14:92480823 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1039A>G (p.Met347Val) single nucleotide variant Achondrogenesis, type IA [RCV001931178] Chr14:92014362 [GRCh38]
Chr14:92480706 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5486C>T (p.Thr1829Ile) single nucleotide variant Achondrogenesis, type IA [RCV002015604] Chr14:91974715 [GRCh38]
Chr14:92441059 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2303A>G (p.Asn768Ser) single nucleotide variant Achondrogenesis, type IA [RCV001903742]|Inborn genetic diseases [RCV002555398] Chr14:92005673 [GRCh38]
Chr14:92472017 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.307A>C (p.Lys103Gln) single nucleotide variant Achondrogenesis, type IA [RCV001898522] Chr14:92025315 [GRCh38]
Chr14:92491659 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4447C>A (p.Gln1483Lys) single nucleotide variant Achondrogenesis, type IA [RCV002028813] Chr14:92003529 [GRCh38]
Chr14:92469873 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5160G>A (p.Gln1720=) single nucleotide variant Achondrogenesis, type IA [RCV001978283] Chr14:91993809 [GRCh38]
Chr14:92460153 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1828_1830del (p.Lys610del) deletion Achondrogenesis, type IA [RCV001990651] Chr14:92006146..92006148 [GRCh38]
Chr14:92472490..92472492 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4182A>T (p.Glu1394Asp) single nucleotide variant Achondrogenesis, type IA [RCV001952672]|Inborn genetic diseases [RCV003348645] Chr14:92003794 [GRCh38]
Chr14:92470138 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1818T>C (p.Asn606=) single nucleotide variant Achondrogenesis, type IA [RCV001972427] Chr14:92006158 [GRCh38]
Chr14:92472502 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4805C>T (p.Ala1602Val) single nucleotide variant Achondrogenesis, type IA [RCV001920081] Chr14:91999327 [GRCh38]
Chr14:92465671 [GRCh37]
Chr14:14q32.12
uncertain significance
NC_000014.8:g.(?_92505871)_(92506029_?)dup duplication Achondrogenesis, type IA [RCV001920464] Chr14:92505871..92506029 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5174A>G (p.Glu1725Gly) single nucleotide variant Achondrogenesis, type IA [RCV001923954] Chr14:91988370 [GRCh38]
Chr14:92454714 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1457G>C (p.Ser486Thr) single nucleotide variant Achondrogenesis, type IA [RCV001880603] Chr14:92007710 [GRCh38]
Chr14:92474054 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3903C>T (p.Thr1301=) single nucleotide variant Achondrogenesis, type IA [RCV001956091] Chr14:92004073 [GRCh38]
Chr14:92470417 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2558G>A (p.Arg853Gln) single nucleotide variant Achondrogenesis, type IA [RCV001915745] Chr14:92005418 [GRCh38]
Chr14:92471762 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5729A>T (p.Glu1910Val) single nucleotide variant Achondrogenesis, type IA [RCV002034033] Chr14:91969884 [GRCh38]
Chr14:92436228 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1820T>C (p.Leu607Ser) single nucleotide variant Achondrogenesis, type IA [RCV001938847] Chr14:92006156 [GRCh38]
Chr14:92472500 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1527+4A>G single nucleotide variant Achondrogenesis, type IA [RCV002027908] Chr14:92007636 [GRCh38]
Chr14:92473980 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2075A>G (p.Gln692Arg) single nucleotide variant Achondrogenesis, type IA [RCV001938894] Chr14:92005901 [GRCh38]
Chr14:92472245 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3467G>C (p.Arg1156Thr) single nucleotide variant Achondrogenesis, type IA [RCV001993552] Chr14:92004509 [GRCh38]
Chr14:92470853 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4828A>G (p.Arg1610Gly) single nucleotide variant Achondrogenesis, type IA [RCV001977524] Chr14:91999304 [GRCh38]
Chr14:92465648 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.674G>A (p.Arg225Gln) single nucleotide variant Achondrogenesis, type IA [RCV001903395] Chr14:92015845 [GRCh38]
Chr14:92482189 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4481G>C (p.Arg1494Pro) single nucleotide variant Achondrogenesis, type IA [RCV002033683] Chr14:92003495 [GRCh38]
Chr14:92469839 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3619C>T (p.Leu1207Phe) single nucleotide variant Achondrogenesis, type IA [RCV002035209] Chr14:92004357 [GRCh38]
Chr14:92470701 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4073A>G (p.Glu1358Gly) single nucleotide variant Achondrogenesis, type IA [RCV001959796] Chr14:92003903 [GRCh38]
Chr14:92470247 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.716T>C (p.Leu239Pro) single nucleotide variant Achondrogenesis, type IA [RCV001973025] Chr14:92015803 [GRCh38]
Chr14:92482147 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4673T>A (p.Met1558Lys) single nucleotide variant Achondrogenesis, type IA [RCV001974774]|Inborn genetic diseases [RCV003303456] Chr14:91999993 [GRCh38]
Chr14:92466337 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3511A>G (p.Ile1171Val) single nucleotide variant Achondrogenesis, type IA [RCV001954916] Chr14:92004465 [GRCh38]
Chr14:92470809 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4959_4960del (p.Asp1653fs) deletion Achondrogenesis, type IA [RCV001897310] Chr14:91995448..91995449 [GRCh38]
Chr14:92461792..92461793 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1255A>C (p.Lys419Gln) single nucleotide variant Achondrogenesis, type IA [RCV002050241]|Inborn genetic diseases [RCV002543483] Chr14:92011045 [GRCh38]
Chr14:92477389 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2038G>A (p.Glu680Lys) single nucleotide variant Achondrogenesis, type IA [RCV001931812] Chr14:92005938 [GRCh38]
Chr14:92472282 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2884G>T (p.Asp962Tyr) single nucleotide variant Achondrogenesis, type IA [RCV001870131] Chr14:92005092 [GRCh38]
Chr14:92471436 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3039A>C (p.Leu1013Phe) single nucleotide variant Achondrogenesis, type IA [RCV002016044] Chr14:92004937 [GRCh38]
Chr14:92471281 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2098A>G (p.Asn700Asp) single nucleotide variant Achondrogenesis, type IA [RCV001992360] Chr14:92005878 [GRCh38]
Chr14:92472222 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1833G>A (p.Glu611=) single nucleotide variant Achondrogenesis, type IA [RCV002129023] Chr14:92006143 [GRCh38]
Chr14:92472487 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.231T>C (p.Asp77=) single nucleotide variant Achondrogenesis, type IA [RCV002185165] Chr14:92025391 [GRCh38]
Chr14:92491735 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4339C>T (p.Leu1447=) single nucleotide variant Achondrogenesis, type IA [RCV002107250] Chr14:92003637 [GRCh38]
Chr14:92469981 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5457+10C>T single nucleotide variant Achondrogenesis, type IA [RCV002189337] Chr14:91975162 [GRCh38]
Chr14:92441506 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4128G>A (p.Ser1376=) single nucleotide variant Achondrogenesis, type IA [RCV002129079] Chr14:92003848 [GRCh38]
Chr14:92470192 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1578T>C (p.Asp526=) single nucleotide variant Achondrogenesis, type IA [RCV002090938] Chr14:92006398 [GRCh38]
Chr14:92472742 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.588+11del deletion Achondrogenesis, type IA [RCV002124879] Chr14:92021545 [GRCh38]
Chr14:92487889 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) single nucleotide variant Achondrogenesis, type IA [RCV002129606]|Connective tissue disorder [RCV002277022] Chr14:92005960 [GRCh38]
Chr14:92472304 [GRCh37]
Chr14:14q32.12
benign|uncertain significance
NM_004239.4(TRIP11):c.5637A>G (p.Pro1879=) single nucleotide variant Achondrogenesis, type IA [RCV002146767] Chr14:91972799 [GRCh38]
Chr14:92439143 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5188T>C (p.Leu1730=) single nucleotide variant Achondrogenesis, type IA [RCV002107472] Chr14:91988356 [GRCh38]
Chr14:92454700 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.824-9A>G single nucleotide variant Achondrogenesis, type IA [RCV002189754] Chr14:92014586 [GRCh38]
Chr14:92480930 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1317A>G (p.Glu439=) single nucleotide variant Achondrogenesis, type IA [RCV002089805] Chr14:92007850 [GRCh38]
Chr14:92474194 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3441T>C (p.Phe1147=) single nucleotide variant Achondrogenesis, type IA [RCV002109670] Chr14:92004535 [GRCh38]
Chr14:92470879 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3864A>G (p.Leu1288=) single nucleotide variant Achondrogenesis, type IA [RCV002074763] Chr14:92004112 [GRCh38]
Chr14:92470456 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1173A>G (p.Gln391=) single nucleotide variant Achondrogenesis, type IA [RCV002146487] Chr14:92014228 [GRCh38]
Chr14:92480572 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4266A>G (p.Gln1422=) single nucleotide variant Achondrogenesis, type IA [RCV002111697] Chr14:92003710 [GRCh38]
Chr14:92470054 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2391A>G (p.Ser797=) single nucleotide variant Achondrogenesis, type IA [RCV002126229] Chr14:92005585 [GRCh38]
Chr14:92471929 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4983C>T (p.Val1661=) single nucleotide variant Achondrogenesis, type IA [RCV002187302] Chr14:91995425 [GRCh38]
Chr14:92461769 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4434A>G (p.Glu1478=) single nucleotide variant Achondrogenesis, type IA [RCV002175024] Chr14:92003542 [GRCh38]
Chr14:92469886 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) single nucleotide variant Achondrogenesis, type IA [RCV002129793] Chr14:92005621 [GRCh38]
Chr14:92471965 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5922A>G (p.Lys1974=) single nucleotide variant Achondrogenesis, type IA [RCV002190277] Chr14:91969691 [GRCh38]
Chr14:92436035 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4149A>G (p.Leu1383=) single nucleotide variant Achondrogenesis, type IA [RCV002113251] Chr14:92003827 [GRCh38]
Chr14:92470171 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3165T>C (p.Gly1055=) single nucleotide variant Achondrogenesis, type IA [RCV002097432] Chr14:92004811 [GRCh38]
Chr14:92471155 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.297A>G (p.Gln99=) single nucleotide variant Achondrogenesis, type IA [RCV002128567] Chr14:92025325 [GRCh38]
Chr14:92491669 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1530C>T (p.His510=) single nucleotide variant Achondrogenesis, type IA [RCV002076994] Chr14:92006446 [GRCh38]
Chr14:92472790 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4892+12A>T single nucleotide variant Achondrogenesis, type IA [RCV002193265] Chr14:91999228 [GRCh38]
Chr14:92465572 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4965T>G (p.Thr1655=) single nucleotide variant Achondrogenesis, type IA [RCV002076715] Chr14:91995443 [GRCh38]
Chr14:92461787 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2655T>G (p.Pro885=) single nucleotide variant Achondrogenesis, type IA [RCV002196288] Chr14:92005321 [GRCh38]
Chr14:92471665 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=) single nucleotide variant Achondrogenesis, type IA [RCV002116073] Chr14:92014303 [GRCh38]
Chr14:92480647 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.5400T>C (p.His1800=) single nucleotide variant Achondrogenesis, type IA [RCV002168169] Chr14:91975229 [GRCh38]
Chr14:92441573 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3669G>A (p.Glu1223=) single nucleotide variant Achondrogenesis, type IA [RCV002219455] Chr14:92004307 [GRCh38]
Chr14:92470651 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5805A>G (p.Pro1935=) single nucleotide variant Achondrogenesis, type IA [RCV002120683] Chr14:91969808 [GRCh38]
Chr14:92436152 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.313-18T>G single nucleotide variant Achondrogenesis, type IA [RCV002184428] Chr14:92021849 [GRCh38]
Chr14:92488193 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.663A>G (p.Leu221=) single nucleotide variant Achondrogenesis, type IA [RCV002137142] Chr14:92015856 [GRCh38]
Chr14:92482200 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.214A>G (p.Lys72Glu) single nucleotide variant Achondrogenesis, type IA [RCV002119441]|Connective tissue disorder [RCV002277018] Chr14:92025408 [GRCh38]
Chr14:92491752 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser) single nucleotide variant Achondrogenesis, type IA [RCV002218973] Chr14:92021568 [GRCh38]
Chr14:92487912 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.657+16G>C single nucleotide variant Achondrogenesis, type IA [RCV002219028] Chr14:92017666 [GRCh38]
Chr14:92484010 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.312+12C>A single nucleotide variant Achondrogenesis, type IA [RCV002154615] Chr14:92025298 [GRCh38]
Chr14:92491642 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3216T>C (p.His1072=) single nucleotide variant Achondrogenesis, type IA [RCV002201154] Chr14:92004760 [GRCh38]
Chr14:92471104 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4698+15T>C single nucleotide variant Achondrogenesis, type IA [RCV002081549] Chr14:91999953 [GRCh38]
Chr14:92466297 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.658-13_658-11del deletion Achondrogenesis, type IA [RCV002219061] Chr14:92015872..92015874 [GRCh38]
Chr14:92482216..92482218 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1030A>C (p.Arg344=) single nucleotide variant Achondrogenesis, type IA [RCV002183734] Chr14:92014371 [GRCh38]
Chr14:92480715 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4558-8T>C single nucleotide variant Achondrogenesis, type IA [RCV002144558] Chr14:92000116 [GRCh38]
Chr14:92466460 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.8:g.(?_90429459)_(97347545_?)dup duplication not provided [RCV003109490] Chr14:90429459..97347545 [GRCh37]
Chr14:14q32.11-32.2
uncertain significance
NM_004239.4(TRIP11):c.5199A>T (p.Ala1733=) single nucleotide variant Achondrogenesis, type IA [RCV003110738] Chr14:91988345 [GRCh38]
Chr14:92454689 [GRCh37]
Chr14:14q32.12
likely benign
NC_000014.8:g.(?_90429459)_(94856914_?)dup duplication Achondrogenesis, type IA [RCV003113413] Chr14:90429459..94856914 [GRCh37]
Chr14:14q32.11-32.13
uncertain significance
NM_004239.4(TRIP11):c.5408T>G (p.Leu1803Ter) single nucleotide variant See cases [RCV003128542] Chr14:91975221 [GRCh38]
Chr14:92441565 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1835A>G (p.His612Arg) single nucleotide variant not provided [RCV003129389] Chr14:92006141 [GRCh38]
Chr14:92472485 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1081C>T (p.Gln361Ter) single nucleotide variant Connective tissue disorder [RCV002278814] Chr14:92014320 [GRCh38]
Chr14:92480664 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.1735C>T (p.Gln579Ter) single nucleotide variant Connective tissue disorder [RCV002278815] Chr14:92006241 [GRCh38]
Chr14:92472585 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2155G>A (p.Gly719Arg) single nucleotide variant Connective tissue disorder [RCV002278816] Chr14:92005821 [GRCh38]
Chr14:92472165 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5368G>C (p.Gly1790Arg) single nucleotide variant Connective tissue disorder [RCV002278818] Chr14:91975261 [GRCh38]
Chr14:92441605 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5818C>A (p.Pro1940Thr) single nucleotide variant not provided [RCV002265324] Chr14:91969795 [GRCh38]
Chr14:92436139 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q13.3-32.33(chr14:37671058-106985955)x2 copy number gain See cases [RCV002286356] Chr14:37671058..106985955 [GRCh37]
Chr14:14q13.3-32.33
pathogenic
t(13;14)(q12.2;q32.12) translocation Myeloid neoplasm [RCV002292429] Chr13:28034151..28034152 [GRCh38]
Chr14:92003435..92003436 [GRCh38]
Chr13:13q12.2
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.975A>G (p.Ala325=) single nucleotide variant Connective tissue disorder [RCV002278819] Chr14:92014426 [GRCh38]
Chr14:92480770 [GRCh37]
Chr14:14q32.12
likely benign|uncertain significance
NM_004239.4(TRIP11):c.202-89_202-88insGG insertion not provided [RCV002285768] Chr14:92025508..92025509 [GRCh38]
Chr14:92491852..92491853 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5221G>A (p.Asp1741Asn) single nucleotide variant Connective tissue disorder [RCV002278817] Chr14:91988323 [GRCh38]
Chr14:92454667 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4567G>A (p.Gly1523Arg) single nucleotide variant Achondrogenesis, type IA [RCV002771409] Chr14:92000099 [GRCh38]
Chr14:92466443 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.312+6T>C single nucleotide variant Achondrogenesis, type IA [RCV002967560] Chr14:92025304 [GRCh38]
Chr14:92491648 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5409A>T (p.Leu1803Phe) single nucleotide variant Achondrogenesis, type IA [RCV002304601] Chr14:91975220 [GRCh38]
Chr14:92441564 [GRCh37]
Chr14:14q32.12
uncertain significance
GRCh37/hg19 14q31.1-32.2(chr14:81593708-97059276)x3 copy number gain not provided [RCV002472541] Chr14:81593708..97059276 [GRCh37]
Chr14:14q31.1-32.2
likely pathogenic
NM_004239.4(TRIP11):c.581_582insA (p.Ala195fs) insertion Achondrogenesis, type IA [RCV002310611] Chr14:92021562..92021563 [GRCh38]
Chr14:92487906..92487907 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.2476A>G (p.Lys826Glu) single nucleotide variant Inborn genetic diseases [RCV002774168] Chr14:92005500 [GRCh38]
Chr14:92471844 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.800A>G (p.Glu267Gly) single nucleotide variant Inborn genetic diseases [RCV002880023] Chr14:92015719 [GRCh38]
Chr14:92482063 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1788A>G (p.Gln596=) single nucleotide variant Achondrogenesis, type IA [RCV002995072] Chr14:92006188 [GRCh38]
Chr14:92472532 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4434A>T (p.Glu1478Asp) single nucleotide variant Achondrogenesis, type IA [RCV002750362] Chr14:92003542 [GRCh38]
Chr14:92469886 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1179A>C (p.Ala393=) single nucleotide variant Achondrogenesis, type IA [RCV003075161] Chr14:92014222 [GRCh38]
Chr14:92480566 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4413A>G (p.Thr1471=) single nucleotide variant Achondrogenesis, type IA [RCV002614595] Chr14:92003563 [GRCh38]
Chr14:92469907 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5260+18C>T single nucleotide variant Achondrogenesis, type IA [RCV003032566] Chr14:91988266 [GRCh38]
Chr14:92454610 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.210G>T (p.Arg70Ser) single nucleotide variant Achondrogenesis, type IA [RCV002816440] Chr14:92025412 [GRCh38]
Chr14:92491756 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.465A>C (p.Ser155=) single nucleotide variant Achondrogenesis, type IA [RCV002994147] Chr14:92021679 [GRCh38]
Chr14:92488023 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1974T>C (p.Leu658=) single nucleotide variant Achondrogenesis, type IA [RCV003014790] Chr14:92006002 [GRCh38]
Chr14:92472346 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1652T>G (p.Met551Arg) single nucleotide variant Achondrogenesis, type IA [RCV003035224] Chr14:92006324 [GRCh38]
Chr14:92472668 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.688G>A (p.Asp230Asn) single nucleotide variant Achondrogenesis, type IA [RCV002690073] Chr14:92015831 [GRCh38]
Chr14:92482175 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1288G>C (p.Glu430Gln) single nucleotide variant Inborn genetic diseases [RCV002817479] Chr14:92011012 [GRCh38]
Chr14:92477356 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4508_4511del (p.Met1503fs) deletion Achondrogenesis, type IA [RCV002617151] Chr14:92003465..92003468 [GRCh38]
Chr14:92469809..92469812 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.24C>G (p.Leu8=) single nucleotide variant Achondrogenesis, type IA [RCV003013326] Chr14:92039662 [GRCh38]
Chr14:92506006 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3641del (p.Lys1213_Leu1214insTer) deletion Achondrogenesis, type IA [RCV003016360] Chr14:92004335 [GRCh38]
Chr14:92470679 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5893C>G (p.Pro1965Ala) single nucleotide variant Inborn genetic diseases [RCV002879680] Chr14:91969720 [GRCh38]
Chr14:92436064 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5155T>C (p.Leu1719=) single nucleotide variant Achondrogenesis, type IA [RCV002843366] Chr14:91993814 [GRCh38]
Chr14:92460158 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5411G>A (p.Arg1804Gln) single nucleotide variant Inborn genetic diseases [RCV002783591] Chr14:91975218 [GRCh38]
Chr14:92441562 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4194A>G (p.Leu1398=) single nucleotide variant Achondrogenesis, type IA [RCV002761235] Chr14:92003782 [GRCh38]
Chr14:92470126 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1620A>C (p.Lys540Asn) single nucleotide variant Achondrogenesis, type IA [RCV002913981] Chr14:92006356 [GRCh38]
Chr14:92472700 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1838T>C (p.Ile613Thr) single nucleotide variant Inborn genetic diseases [RCV002799956] Chr14:92006138 [GRCh38]
Chr14:92472482 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2448dup (p.Ile817fs) duplication Achondrogenesis, type IA [RCV002571730] Chr14:92005527..92005528 [GRCh38]
Chr14:92471871..92471872 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5056+12G>A single nucleotide variant Achondrogenesis, type IA [RCV002695922] Chr14:91995340 [GRCh38]
Chr14:92461684 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4699-13G>A single nucleotide variant Achondrogenesis, type IA [RCV003078048] Chr14:91999446 [GRCh38]
Chr14:92465790 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2610A>G (p.Glu870=) single nucleotide variant Achondrogenesis, type IA [RCV003018134] Chr14:92005366 [GRCh38]
Chr14:92471710 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1228-4G>A single nucleotide variant Achondrogenesis, type IA [RCV003018534] Chr14:92011076 [GRCh38]
Chr14:92477420 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2758G>A (p.Glu920Lys) single nucleotide variant Achondrogenesis, type IA [RCV003035299] Chr14:92005218 [GRCh38]
Chr14:92471562 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.657+12del deletion Achondrogenesis, type IA [RCV003018520] Chr14:92017670 [GRCh38]
Chr14:92484014 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4040A>G (p.Gln1347Arg) single nucleotide variant Achondrogenesis, type IA [RCV002591328] Chr14:92003936 [GRCh38]
Chr14:92470280 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4315C>A (p.Leu1439Ile) single nucleotide variant Inborn genetic diseases [RCV002798673] Chr14:92003661 [GRCh38]
Chr14:92470005 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5160+11A>T single nucleotide variant Achondrogenesis, type IA [RCV003020803] Chr14:91993798 [GRCh38]
Chr14:92460142 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4822A>G (p.Lys1608Glu) single nucleotide variant Achondrogenesis, type IA [RCV003080560] Chr14:91999310 [GRCh38]
Chr14:92465654 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1655A>C (p.Asp552Ala) single nucleotide variant Achondrogenesis, type IA [RCV002927202] Chr14:92006321 [GRCh38]
Chr14:92472665 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.262C>G (p.Gln88Glu) single nucleotide variant Achondrogenesis, type IA [RCV002592931] Chr14:92025360 [GRCh38]
Chr14:92491704 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3091G>A (p.Glu1031Lys) single nucleotide variant Achondrogenesis, type IA [RCV002912813] Chr14:92004885 [GRCh38]
Chr14:92471229 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4519G>C (p.Ala1507Pro) single nucleotide variant Achondrogenesis, type IA [RCV002659578] Chr14:92003457 [GRCh38]
Chr14:92469801 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1268G>A (p.Arg423His) single nucleotide variant Achondrogenesis, type IA [RCV002949223] Chr14:92011032 [GRCh38]
Chr14:92477376 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1743T>A (p.Leu581=) single nucleotide variant Achondrogenesis, type IA [RCV003053000] Chr14:92006233 [GRCh38]
Chr14:92472577 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.658-18_658-17insGGATTACAGGCGTGAGCCACCGCGCCCGGCC insertion Achondrogenesis, type IA [RCV003019935] Chr14:92015878..92015879 [GRCh38]
Chr14:92482222..92482223 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.658-18T>G single nucleotide variant Achondrogenesis, type IA [RCV003019936] Chr14:92015879 [GRCh38]
Chr14:92482223 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4460T>A (p.Met1487Lys) single nucleotide variant Inborn genetic diseases [RCV002782609] Chr14:92003516 [GRCh38]
Chr14:92469860 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1812G>A (p.Lys604=) single nucleotide variant Achondrogenesis, type IA [RCV002867649] Chr14:92006164 [GRCh38]
Chr14:92472508 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2044T>C (p.Leu682=) single nucleotide variant Achondrogenesis, type IA [RCV002927482] Chr14:92005932 [GRCh38]
Chr14:92472276 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4020A>G (p.Glu1340=) single nucleotide variant Achondrogenesis, type IA [RCV002891208] Chr14:92003956 [GRCh38]
Chr14:92470300 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2289T>C (p.His763=) single nucleotide variant Achondrogenesis, type IA [RCV003085359] Chr14:92005687 [GRCh38]
Chr14:92472031 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2665G>C (p.Asp889His) single nucleotide variant Achondrogenesis, type IA [RCV003042524] Chr14:92005311 [GRCh38]
Chr14:92471655 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2382C>A (p.Asp794Glu) single nucleotide variant Inborn genetic diseases [RCV002804683] Chr14:92005594 [GRCh38]
Chr14:92471938 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3622C>A (p.Leu1208Ile) single nucleotide variant Achondrogenesis, type IA [RCV002667745] Chr14:92004354 [GRCh38]
Chr14:92470698 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.517G>C (p.Glu173Gln) single nucleotide variant Inborn genetic diseases [RCV002713053] Chr14:92021627 [GRCh38]
Chr14:92487971 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5575-1G>A single nucleotide variant Achondrogenesis, type IA [RCV002914585] Chr14:91972862 [GRCh38]
Chr14:92439206 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.1273G>A (p.Glu425Lys) single nucleotide variant Inborn genetic diseases [RCV002931021] Chr14:92011027 [GRCh38]
Chr14:92477371 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5888C>T (p.Ala1963Val) single nucleotide variant Achondrogenesis, type IA [RCV002700600] Chr14:91969725 [GRCh38]
Chr14:92436069 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2455A>G (p.Lys819Glu) single nucleotide variant Achondrogenesis, type IA [RCV002805757] Chr14:92005521 [GRCh38]
Chr14:92471865 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3475A>G (p.Ile1159Val) single nucleotide variant Achondrogenesis, type IA [RCV002928298] Chr14:92004501 [GRCh38]
Chr14:92470845 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2700A>G (p.Gln900=) single nucleotide variant Achondrogenesis, type IA [RCV002574045] Chr14:92005276 [GRCh38]
Chr14:92471620 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3211C>G (p.Leu1071Val) single nucleotide variant Inborn genetic diseases [RCV002830433] Chr14:92004765 [GRCh38]
Chr14:92471109 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.218A>G (p.Lys73Arg) single nucleotide variant Achondrogenesis, type IA [RCV002801817] Chr14:92025404 [GRCh38]
Chr14:92491748 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5343-4A>G single nucleotide variant Achondrogenesis, type IA [RCV002766284] Chr14:91975290 [GRCh38]
Chr14:92441634 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4922T>C (p.Leu1641Ser) single nucleotide variant Achondrogenesis, type IA [RCV003083636] Chr14:91995486 [GRCh38]
Chr14:92461830 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.185C>A (p.Ala62Glu) single nucleotide variant Achondrogenesis, type IA [RCV003056545] Chr14:92033208 [GRCh38]
Chr14:92499552 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5754T>C (p.Asp1918=) single nucleotide variant Achondrogenesis, type IA [RCV002917722] Chr14:91969859 [GRCh38]
Chr14:92436203 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5211A>G (p.Thr1737=) single nucleotide variant Achondrogenesis, type IA [RCV003024576] Chr14:91988333 [GRCh38]
Chr14:92454677 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5530C>G (p.Pro1844Ala) single nucleotide variant Achondrogenesis, type IA [RCV002643765] Chr14:91974671 [GRCh38]
Chr14:92441015 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1814A>G (p.Glu605Gly) single nucleotide variant Achondrogenesis, type IA [RCV002766005] Chr14:92006162 [GRCh38]
Chr14:92472506 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2444_2455del (p.Ile815_Glu818del) deletion Achondrogenesis, type IA [RCV003056763] Chr14:92005521..92005532 [GRCh38]
Chr14:92471865..92471876 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.178A>G (p.Ile60Val) single nucleotide variant Achondrogenesis, type IA [RCV003041074] Chr14:92033215 [GRCh38]
Chr14:92499559 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4935G>C (p.Leu1645Phe) single nucleotide variant Inborn genetic diseases [RCV002742278] Chr14:91995473 [GRCh38]
Chr14:92461817 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2257A>G (p.Asn753Asp) single nucleotide variant Achondrogenesis, type IA [RCV002573160] Chr14:92005719 [GRCh38]
Chr14:92472063 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3167A>C (p.Lys1056Thr) single nucleotide variant Achondrogenesis, type IA [RCV002624346] Chr14:92004809 [GRCh38]
Chr14:92471153 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3014A>T (p.Glu1005Val) single nucleotide variant Achondrogenesis, type IA [RCV002917723] Chr14:92004962 [GRCh38]
Chr14:92471306 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5555A>G (p.Gln1852Arg) single nucleotide variant Achondrogenesis, type IA [RCV002958220] Chr14:91974646 [GRCh38]
Chr14:92440990 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.313-6A>G single nucleotide variant Achondrogenesis, type IA [RCV002894290] Chr14:92021837 [GRCh38]
Chr14:92488181 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.140-20A>G single nucleotide variant Achondrogenesis, type IA [RCV003040538] Chr14:92033273 [GRCh38]
Chr14:92499617 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5568T>A (p.Val1856=) single nucleotide variant Achondrogenesis, type IA [RCV002929181] Chr14:91974633 [GRCh38]
Chr14:92440977 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3054G>A (p.Thr1018=) single nucleotide variant Achondrogenesis, type IA [RCV003058891] Chr14:92004922 [GRCh38]
Chr14:92471266 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4790G>A (p.Arg1597His) single nucleotide variant Achondrogenesis, type IA [RCV003083464] Chr14:91999342 [GRCh38]
Chr14:92465686 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5392C>T (p.Gln1798Ter) single nucleotide variant Achondrogenesis, type IA [RCV002857141] Chr14:91975237 [GRCh38]
Chr14:92441581 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.4418G>A (p.Arg1473Lys) single nucleotide variant Achondrogenesis, type IA [RCV003009332] Chr14:92003558 [GRCh38]
Chr14:92469902 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1227+15A>G single nucleotide variant Achondrogenesis, type IA [RCV003061285] Chr14:92011740 [GRCh38]
Chr14:92478084 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3773A>T (p.Asp1258Val) single nucleotide variant Achondrogenesis, type IA [RCV002900001] Chr14:92004203 [GRCh38]
Chr14:92470547 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1828A>C (p.Lys610Gln) single nucleotide variant Achondrogenesis, type IA [RCV002720249] Chr14:92006148 [GRCh38]
Chr14:92472492 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2637C>T (p.Thr879=) single nucleotide variant Achondrogenesis, type IA [RCV003063006] Chr14:92005339 [GRCh38]
Chr14:92471683 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4893-9del deletion Achondrogenesis, type IA [RCV002942063] Chr14:91995524 [GRCh38]
Chr14:92461868 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.1671A>C (p.Leu557Phe) single nucleotide variant Achondrogenesis, type IA [RCV002632253] Chr14:92006305 [GRCh38]
Chr14:92472649 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5285A>C (p.Asp1762Ala) single nucleotide variant Achondrogenesis, type IA [RCV003091720] Chr14:91976165 [GRCh38]
Chr14:92442509 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.588+17dup duplication Achondrogenesis, type IA [RCV003009165] Chr14:92021538..92021539 [GRCh38]
Chr14:92487882..92487883 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.349C>T (p.Leu117Phe) single nucleotide variant Achondrogenesis, type IA [RCV002922253] Chr14:92021795 [GRCh38]
Chr14:92488139 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.481G>C (p.Asp161His) single nucleotide variant Inborn genetic diseases [RCV002769930] Chr14:92021663 [GRCh38]
Chr14:92488007 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2971T>G (p.Ser991Ala) single nucleotide variant Achondrogenesis, type IA [RCV003044988] Chr14:92005005 [GRCh38]
Chr14:92471349 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4915G>A (p.Glu1639Lys) single nucleotide variant Inborn genetic diseases [RCV002921630] Chr14:91995493 [GRCh38]
Chr14:92461837 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4264C>G (p.Gln1422Glu) single nucleotide variant Inborn genetic diseases [RCV002855243] Chr14:92003712 [GRCh38]
Chr14:92470056 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4536G>A (p.Gln1512=) single nucleotide variant Achondrogenesis, type IA [RCV002877184] Chr14:92003440 [GRCh38]
Chr14:92469784 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.201+10A>C single nucleotide variant Achondrogenesis, type IA [RCV002770653] Chr14:92033182 [GRCh38]
Chr14:92499526 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2023G>A (p.Val675Ile) single nucleotide variant Achondrogenesis, type IA [RCV002601375] Chr14:92005953 [GRCh38]
Chr14:92472297 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4934T>C (p.Leu1645Ser) single nucleotide variant Achondrogenesis, type IA [RCV002962055] Chr14:91995474 [GRCh38]
Chr14:92461818 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1186+1G>C single nucleotide variant Achondrogenesis, type IA [RCV002600741] Chr14:92014214 [GRCh38]
Chr14:92480558 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.5158C>A (p.Gln1720Lys) single nucleotide variant Inborn genetic diseases [RCV002673746] Chr14:91993811 [GRCh38]
Chr14:92460155 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4585T>G (p.Leu1529Val) single nucleotide variant Inborn genetic diseases [RCV002935386] Chr14:92000081 [GRCh38]
Chr14:92466425 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3728A>G (p.Gln1243Arg) single nucleotide variant Achondrogenesis, type IA [RCV002576549] Chr14:92004248 [GRCh38]
Chr14:92470592 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4230G>A (p.Lys1410=) single nucleotide variant Achondrogenesis, type IA [RCV002577467] Chr14:92003746 [GRCh38]
Chr14:92470090 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1605T>C (p.Asp535=) single nucleotide variant Achondrogenesis, type IA [RCV003064769] Chr14:92006371 [GRCh38]
Chr14:92472715 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1186+5A>G single nucleotide variant Achondrogenesis, type IA [RCV002715030] Chr14:92014210 [GRCh38]
Chr14:92480554 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2257A>C (p.Asn753His) single nucleotide variant Achondrogenesis, type IA [RCV002715086] Chr14:92005719 [GRCh38]
Chr14:92472063 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.604G>A (p.Gly202Arg) single nucleotide variant Achondrogenesis, type IA [RCV002834817] Chr14:92017735 [GRCh38]
Chr14:92484079 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3756G>A (p.Gln1252=) single nucleotide variant Achondrogenesis, type IA [RCV002812018] Chr14:92004220 [GRCh38]
Chr14:92470564 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2638G>A (p.Ala880Thr) single nucleotide variant Achondrogenesis, type IA [RCV003088313] Chr14:92005338 [GRCh38]
Chr14:92471682 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.41A>C (p.Gln14Pro) single nucleotide variant Achondrogenesis, type IA [RCV002933562] Chr14:92039645 [GRCh38]
Chr14:92505989 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2542A>G (p.Ile848Val) single nucleotide variant Achondrogenesis, type IA [RCV003065165] Chr14:92005434 [GRCh38]
Chr14:92471778 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2125A>G (p.Thr709Ala) single nucleotide variant Achondrogenesis, type IA [RCV002942587]|not provided [RCV003111606] Chr14:92005851 [GRCh38]
Chr14:92472195 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3629A>T (p.Glu1210Val) single nucleotide variant Achondrogenesis, type IA [RCV002814974] Chr14:92004347 [GRCh38]
Chr14:92470691 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.201+15dup duplication Achondrogenesis, type IA [RCV002582854] Chr14:92033176..92033177 [GRCh38]
Chr14:92499520..92499521 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.661C>T (p.Leu221=) single nucleotide variant Achondrogenesis, type IA [RCV002603907] Chr14:92015858 [GRCh38]
Chr14:92482202 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.533C>T (p.Ser178Leu) single nucleotide variant Achondrogenesis, type IA [RCV002635866] Chr14:92021611 [GRCh38]
Chr14:92487955 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5260+12del deletion Achondrogenesis, type IA [RCV003071329] Chr14:91988272 [GRCh38]
Chr14:92454616 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.885A>G (p.Gln295=) single nucleotide variant Achondrogenesis, type IA [RCV002608398] Chr14:92014516 [GRCh38]
Chr14:92480860 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1315-12T>C single nucleotide variant Achondrogenesis, type IA [RCV003072750] Chr14:92007864 [GRCh38]
Chr14:92474208 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3708A>G (p.Gln1236=) single nucleotide variant Achondrogenesis, type IA [RCV003070425] Chr14:92004268 [GRCh38]
Chr14:92470612 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4754G>A (p.Arg1585His) single nucleotide variant Achondrogenesis, type IA [RCV003070446] Chr14:91999378 [GRCh38]
Chr14:92465722 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3953C>G (p.Ser1318Cys) single nucleotide variant Achondrogenesis, type IA [RCV003070447] Chr14:92004023 [GRCh38]
Chr14:92470367 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5161-18T>C single nucleotide variant Achondrogenesis, type IA [RCV002633611] Chr14:91988401 [GRCh38]
Chr14:92454745 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.379G>C (p.Ala127Pro) single nucleotide variant Achondrogenesis, type IA [RCV002605802] Chr14:92021765 [GRCh38]
Chr14:92488109 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1192G>A (p.Glu398Lys) single nucleotide variant Achondrogenesis, type IA [RCV002589925] Chr14:92011790 [GRCh38]
Chr14:92478134 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1295C>T (p.Ser432Leu) single nucleotide variant Achondrogenesis, type IA [RCV003051292] Chr14:92011005 [GRCh38]
Chr14:92477349 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4012T>C (p.Leu1338=) single nucleotide variant Achondrogenesis, type IA [RCV002680755] Chr14:92003964 [GRCh38]
Chr14:92470308 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4558-18A>T single nucleotide variant Achondrogenesis, type IA [RCV003069713] Chr14:92000126 [GRCh38]
Chr14:92466470 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4311C>T (p.Asn1437=) single nucleotide variant Achondrogenesis, type IA [RCV002610857] Chr14:92003665 [GRCh38]
Chr14:92470009 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.3823G>A (p.Glu1275Lys) single nucleotide variant Achondrogenesis, type IA [RCV003066431] Chr14:92004153 [GRCh38]
Chr14:92470497 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1580G>C (p.Ser527Thr) single nucleotide variant Achondrogenesis, type IA [RCV002634986] Chr14:92006396 [GRCh38]
Chr14:92472740 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.2212A>C (p.Lys738Gln) single nucleotide variant Achondrogenesis, type IA [RCV002654602] Chr14:92005764 [GRCh38]
Chr14:92472108 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5457+11G>A single nucleotide variant Achondrogenesis, type IA [RCV003066993] Chr14:91975161 [GRCh38]
Chr14:92441505 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5458-15A>G single nucleotide variant Achondrogenesis, type IA [RCV003093229] Chr14:91974758 [GRCh38]
Chr14:92441102 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.4607A>G (p.Gln1536Arg) single nucleotide variant Achondrogenesis, type IA [RCV002943149] Chr14:92000059 [GRCh38]
Chr14:92466403 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5003A>G (p.Gln1668Arg) single nucleotide variant Achondrogenesis, type IA [RCV003073191] Chr14:91995405 [GRCh38]
Chr14:92461749 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1924A>G (p.Thr642Ala) single nucleotide variant Inborn genetic diseases [RCV003277967] Chr14:92006052 [GRCh38]
Chr14:92472396 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1995T>G (p.Asn665Lys) single nucleotide variant Inborn genetic diseases [RCV003300099] Chr14:92005981 [GRCh38]
Chr14:92472325 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3342del (p.His1114_Leu1115insTer) deletion not provided [RCV003132961] Chr14:92004634 [GRCh38]
Chr14:92470978 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.5371C>T (p.His1791Tyr) single nucleotide variant Inborn genetic diseases [RCV003207721] Chr14:91975258 [GRCh38]
Chr14:92441602 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.922A>G (p.Met308Val) single nucleotide variant Inborn genetic diseases [RCV003218799] Chr14:92014479 [GRCh38]
Chr14:92480823 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4679A>G (p.Asn1560Ser) single nucleotide variant Inborn genetic diseases [RCV003200603] Chr14:91999987 [GRCh38]
Chr14:92466331 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.811C>G (p.Leu271Val) single nucleotide variant Inborn genetic diseases [RCV003282362] Chr14:92015708 [GRCh38]
Chr14:92482052 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4274C>A (p.Ser1425Tyr) single nucleotide variant Inborn genetic diseases [RCV003282601] Chr14:92003702 [GRCh38]
Chr14:92470046 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4558-32T>G single nucleotide variant not provided [RCV003142822] Chr14:92000140 [GRCh38]
Chr14:92466484 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.720G>C (p.Gln240His) single nucleotide variant not provided [RCV003142823] Chr14:92015799 [GRCh38]
Chr14:92482143 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5663C>T (p.Pro1888Leu) single nucleotide variant not provided [RCV003142824] Chr14:91972773 [GRCh38]
Chr14:92439117 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1895A>G (p.Asn632Ser) single nucleotide variant Inborn genetic diseases [RCV003203584] Chr14:92006081 [GRCh38]
Chr14:92472425 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4501C>G (p.His1501Asp) single nucleotide variant Inborn genetic diseases [RCV003219300] Chr14:92003475 [GRCh38]
Chr14:92469819 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4384A>G (p.Lys1462Glu) single nucleotide variant Inborn genetic diseases [RCV003358946] Chr14:92003592 [GRCh38]
Chr14:92469936 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.677G>A (p.Ser226Asn) single nucleotide variant Inborn genetic diseases [RCV003378777] Chr14:92015842 [GRCh38]
Chr14:92482186 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3632G>A (p.Arg1211His) single nucleotide variant Inborn genetic diseases [RCV003354143] Chr14:92004344 [GRCh38]
Chr14:92470688 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1520C>T (p.Ala507Val) single nucleotide variant Inborn genetic diseases [RCV003374579] Chr14:92007647 [GRCh38]
Chr14:92473991 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.1867A>T (p.Ile623Leu) single nucleotide variant Inborn genetic diseases [RCV003354815] Chr14:92006109 [GRCh38]
Chr14:92472453 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.75C>T (p.Ser25=) single nucleotide variant Achondrogenesis, type IA [RCV003506074] Chr14:92039611 [GRCh38]
Chr14:92505955 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.953T>C (p.Ile318Thr) single nucleotide variant Achondrogenesis, type IA [RCV003873126] Chr14:92014448 [GRCh38]
Chr14:92480792 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5234A>G (p.Glu1745Gly) single nucleotide variant Achondrogenesis, type IA [RCV003505497] Chr14:91988310 [GRCh38]
Chr14:92454654 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.961A>G (p.Lys321Glu) single nucleotide variant Achondrogenesis, type IA [RCV003505498] Chr14:92014440 [GRCh38]
Chr14:92480784 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3173del (p.Thr1058fs) deletion Achondrogenesis, type IA [RCV003505788] Chr14:92004803 [GRCh38]
Chr14:92471147 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5519C>G (p.Ser1840Ter) single nucleotide variant Achondrogenesis, type IA [RCV003505610] Chr14:91974682 [GRCh38]
Chr14:92441026 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.201+14_201+15del deletion Achondrogenesis, type IA [RCV003505004] Chr14:92033177..92033178 [GRCh38]
Chr14:92499521..92499522 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5744GAA[3] (p.Arg1916_Thr1917insArg) microsatellite Achondrogenesis, type IA [RCV003504715] Chr14:91969863..91969864 [GRCh38]
Chr14:92436207..92436208 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.5549C>T (p.Pro1850Leu) single nucleotide variant Achondrogenesis, type IA [RCV003504835] Chr14:91974652 [GRCh38]
Chr14:92440996 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.944_948del (p.Ile315fs) microsatellite Achondrogenesis, type IA [RCV003505601] Chr14:92014453..92014457 [GRCh38]
Chr14:92480797..92480801 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.1186+10C>G single nucleotide variant Achondrogenesis, type IA [RCV003506258] Chr14:92014205 [GRCh38]
Chr14:92480549 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.589-11_589-10del deletion Achondrogenesis, type IA [RCV003506279] Chr14:92017760..92017761 [GRCh38]
Chr14:92484104..92484105 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.2853C>T (p.Asn951=) single nucleotide variant Achondrogenesis, type IA [RCV003505505] Chr14:92005123 [GRCh38]
Chr14:92471467 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1622dup (p.Arg542fs) duplication Achondrogenesis, type IA [RCV003505561] Chr14:92006353..92006354 [GRCh38]
Chr14:92472697..92472698 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.5261-7A>T single nucleotide variant Achondrogenesis, type IA [RCV003506063] Chr14:91976196 [GRCh38]
Chr14:92442540 [GRCh37]
Chr14:14q32.12
likely benign
GRCh37/hg19 14q23.1-32.33(chr14:58894502-107227240)x3 copy number gain not provided [RCV003485036] Chr14:58894502..107227240 [GRCh37]
Chr14:14q23.1-32.33
pathogenic
GRCh37/hg19 14q31.3-32.33(chr14:88580184-107285437)x3 copy number gain not provided [RCV003485051] Chr14:88580184..107285437 [GRCh37]
Chr14:14q31.3-32.33
pathogenic
NM_004239.4(TRIP11):c.1942_1943del (p.Glu648fs) microsatellite not provided [RCV003393564] Chr14:92006033..92006034 [GRCh38]
Chr14:92472377..92472378 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.757C>T (p.Arg253Ter) single nucleotide variant TRIP11-related condition [RCV003410448] Chr14:92015762 [GRCh38]
Chr14:92482106 [GRCh37]
Chr14:14q32.12
pathogenic
NM_004239.4(TRIP11):c.4036C>T (p.Gln1346Ter) single nucleotide variant TRIP11-related condition [RCV003402819] Chr14:92003940 [GRCh38]
Chr14:92470284 [GRCh37]
Chr14:14q32.12
likely pathogenic
NM_004239.4(TRIP11):c.5343-18C>T single nucleotide variant Achondrogenesis, type IA [RCV003506645] Chr14:91975304 [GRCh38]
Chr14:92441648 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1186+18C>G single nucleotide variant Achondrogenesis, type IA [RCV003506664] Chr14:92014197 [GRCh38]
Chr14:92480541 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.5762C>T (p.Pro1921Leu) single nucleotide variant Achondrogenesis, type IA [RCV003506502] Chr14:91969851 [GRCh38]
Chr14:92436195 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.4018G>A (p.Glu1340Lys) single nucleotide variant Achondrogenesis, type IA [RCV003506378] Chr14:92003958 [GRCh38]
Chr14:92470302 [GRCh37]
Chr14:14q32.12
uncertain significance
NM_004239.4(TRIP11):c.3903C>G (p.Thr1301=) single nucleotide variant Achondrogenesis, type IA [RCV003878820] Chr14:92004073 [GRCh38]
Chr14:92470417 [GRCh37]
Chr14:14q32.12
likely benign
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr) single nucleotide variant Achondrogenesis, type IA [RCV003506428] Chr14:92007783 [GRCh38]
Chr14:92474127 [GRCh37]
Chr14:14q32.12
benign
NM_004239.4(TRIP11):c.4280A>G (p.Asn1427Ser) single nucleotide variant Achondrogenesis, type IA [RCV003878046] Chr14:92003696 [GRCh38]
Chr14:92470040 [GRCh37]
Chr14:14q32.12
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1794
Count of miRNA genes:943
Interacting mature miRNAs:1133
Transcripts:ENST00000267622, ENST00000554357, ENST00000555105, ENST00000555516, ENST00000557017
Prediction methods:Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
RH41983  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,505,069 - 92,505,244UniSTSGRCh37
Build 361491,574,822 - 91,574,997RGDNCBI36
Celera1472,557,668 - 72,557,843RGD
Cytogenetic Map14q31-q32UniSTS
HuRef1472,685,997 - 72,686,172UniSTS
GeneMap99-GB4 RH Map14244.87UniSTS
TRIP11_7940  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,435,691 - 92,436,171UniSTSGRCh37
Build 361491,505,444 - 91,505,924RGDNCBI36
Celera1472,488,300 - 72,488,780RGD
HuRef1472,616,522 - 72,617,002UniSTS
STS-J04802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371382,264,573 - 82,264,688UniSTSGRCh37
GRCh371492,493,268 - 92,493,382UniSTSGRCh37
Build 361381,162,574 - 81,162,689RGDNCBI36
Celera1363,165,866 - 63,165,981RGD
Celera1472,545,878 - 72,545,992UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map13q31.1UniSTS
HuRef1362,970,096 - 62,970,211UniSTS
GeneMap99-GB4 RH Map13239.14UniSTS
RH17544  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,435,896 - 92,436,071UniSTSGRCh37
Build 361491,505,649 - 91,505,824RGDNCBI36
Celera1472,488,505 - 72,488,680RGD
Cytogenetic Map14q31-q32UniSTS
HuRef1472,616,727 - 72,616,902UniSTS
GeneMap99-GB4 RH Map14244.87UniSTS
NCBI RH Map14965.5UniSTS
RH17653  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371492,436,003 - 92,436,202UniSTSGRCh37
Build 361491,505,756 - 91,505,955RGDNCBI36
Celera1472,488,612 - 72,488,811RGD
Cytogenetic Map14q31-q32UniSTS
HuRef1472,616,834 - 72,617,033UniSTS
GeneMap99-GB4 RH Map14244.97UniSTS
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p35.2UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map5q32-q34UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map8p22-p21UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map14q31-q32.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map20p11.23-p11.21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map6p25.1-p23UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic MapXp21.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map12p13-p12UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q22UniSTS
Cytogenetic Map4p15.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p16.3UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map6q24.3UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map6q22.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map3p21-p12UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p22-p21.33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map9q22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map2q31.3UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q32-q33UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map14q23-q24.2UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map2p24-p21UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic MapXq25-q26UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map15q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q26.2-q27UniSTS
Cytogenetic Map1q25.1-q25.2UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map4q32-q34UniSTS
Cytogenetic MapXq25-q26.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp22.2-p22.1UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map20q11.22-q12UniSTS
Cytogenetic Map4q34.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q31.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map21q21.2UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map8q21.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q32.2UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map2q36.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map20p12UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map22q13.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map11p14UniSTS
Cytogenetic Map1p32.1UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3p13UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map8q23UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map4q31.3UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic MapXq13UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map16q12-q13UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q13.1UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map22qUniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic MapXp22.12-p22.11UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map8p22-p21.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map1p36.12UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map6q25.2-q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map7q22-qterUniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map5p15.1-p14.3UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic MapXq22.2UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map14q32.13UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map20q13.2-q13.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map17q11-q21UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map6q16.3UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic MapXq27.1UniSTS
Cytogenetic Map8q12.3UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map18p11.3UniSTS
Cytogenetic Map17q11.1UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map13q12.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map2q32-q34UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map19q13.33-q13.41UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6q23-q24UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS
RH78915  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map14q31-q32UniSTS
GeneMap99-GB4 RH Map14244.87UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 890 989 945 167 761 86 2301 495 962 222 1061 1133 95 1 616 1492 6 2
Low 1549 1919 781 457 1111 379 2054 1698 2771 196 399 480 80 588 1296
Below cutoff 83 79 1 4 1 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_016970 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004239 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021787 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017021788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047431935 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054377022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001750598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_943560 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF007217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF011368 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK307489 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL049872 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL599917 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW002857 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC002656 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC069008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC146845 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM770594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU628691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX113728 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX486357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX641024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068264 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA111770 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KT585178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L40380 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  Y12490 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000267622   ⟹   ENSP00000267622
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,965,991 - 92,040,059 (-)Ensembl
RefSeq Acc Id: ENST00000554357   ⟹   ENSP00000451032
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,969,513 - 92,015,751 (-)Ensembl
RefSeq Acc Id: ENST00000555105
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1492,030,541 - 92,040,017 (-)Ensembl
RefSeq Acc Id: ENST00000555516   ⟹   ENSP00000451944
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1492,015,833 - 92,040,896 (-)Ensembl
RefSeq Acc Id: ENST00000557017   ⟹   ENSP00000451607
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1491,975,172 - 91,999,379 (-)Ensembl
RefSeq Acc Id: NM_001321851   ⟹   NP_001308780
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,965,991 - 92,040,059 (-)NCBI
CHM1_11492,370,669 - 92,444,720 (-)NCBI
T2T-CHM13v2.01486,195,456 - 86,269,539 (-)NCBI
Sequence:
RefSeq Acc Id: NM_004239   ⟹   NP_004230
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,965,991 - 92,040,059 (-)NCBI
GRCh371492,434,243 - 92,506,484 (-)NCBI
Build 361491,505,614 - 91,576,139 (-)NCBI Archive
HuRef1472,615,074 - 72,687,331 (-)ENTREZGENE
CHM1_11492,370,669 - 92,444,720 (-)NCBI
T2T-CHM13v2.01486,195,456 - 86,269,539 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047431935   ⟹   XP_047287891
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,965,991 - 92,014,302 (-)NCBI
RefSeq Acc Id: XM_054377022   ⟹   XP_054232997
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01486,195,456 - 86,243,791 (-)NCBI
RefSeq Acc Id: XR_001750598
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,988,315 - 92,040,059 (-)NCBI
Sequence:
RefSeq Acc Id: XR_943560
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381491,976,153 - 92,040,059 (-)NCBI
Sequence:
RefSeq Acc Id: NP_004230   ⟸   NM_004239
- Peptide Label: isoform 1
- UniProtKB: O95949 (UniProtKB/Swiss-Prot),   O15154 (UniProtKB/Swiss-Prot),   O14689 (UniProtKB/Swiss-Prot),   B2RUT2 (UniProtKB/Swiss-Prot),   Q6MZL5 (UniProtKB/Swiss-Prot),   Q15643 (UniProtKB/Swiss-Prot),   H0YJ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001308780   ⟸   NM_001321851
- Peptide Label: isoform 2
- UniProtKB: H0YJ97 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000451944   ⟸   ENST00000555516
RefSeq Acc Id: ENSP00000267622   ⟸   ENST00000267622
RefSeq Acc Id: ENSP00000451607   ⟸   ENST00000557017
RefSeq Acc Id: ENSP00000451032   ⟸   ENST00000554357
RefSeq Acc Id: XP_047287891   ⟸   XM_047431935
- Peptide Label: isoform X1
- UniProtKB: H0YJ97 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054232997   ⟸   XM_054377022
- Peptide Label: isoform X1
- UniProtKB: H0YJ97 (UniProtKB/TrEMBL)
Protein Domains
GRIP

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15643-F1-model_v2 AlphaFold Q15643 1-1979 view protein structure

Promoters
RGD ID:6791973
Promoter ID:HG_KWN:20023
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:UC001XZY.2,   UC001XZZ.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361491,575,721 - 91,576,887 (-)MPROMDB
RGD ID:7228413
Promoter ID:EPDNEW_H19952
Type:initiation region
Name:TRIP11_1
Description:thyroid hormone receptor interactor 11
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381492,040,037 - 92,040,097EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12305 AgrOrtholog
COSMIC TRIP11 COSMIC
Ensembl Genes ENSG00000100815 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000267622 ENTREZGENE
  ENST00000267622.8 UniProtKB/Swiss-Prot
  ENST00000554357 ENTREZGENE
  ENST00000554357.5 UniProtKB/TrEMBL
  ENST00000555516.6 UniProtKB/TrEMBL
  ENST00000557017.1 UniProtKB/TrEMBL
GTEx ENSG00000100815 GTEx
HGNC ID HGNC:12305 ENTREZGENE
Human Proteome Map TRIP11 Human Proteome Map
InterPro GRIP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9321 UniProtKB/Swiss-Prot
NCBI Gene 9321 ENTREZGENE
OMIM 604505 OMIM
PANTHER MYOSIN HEAVY CHAIN - RELATED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  THYROID RECEPTOR-INTERACTING PROTEIN 11 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36984 PharmGKB
PROSITE GRIP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RUT2 ENTREZGENE
  G3V4R7_HUMAN UniProtKB/TrEMBL
  H0YJ97 ENTREZGENE, UniProtKB/TrEMBL
  H0YJI2_HUMAN UniProtKB/TrEMBL
  O14689 ENTREZGENE
  O15154 ENTREZGENE
  O95949 ENTREZGENE
  Q15643 ENTREZGENE
  Q6MZL5 ENTREZGENE
  TRIPB_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RUT2 UniProtKB/Swiss-Prot
  O14689 UniProtKB/Swiss-Prot
  O15154 UniProtKB/Swiss-Prot
  O95949 UniProtKB/Swiss-Prot
  Q6MZL5 UniProtKB/Swiss-Prot