TRIP4 (thyroid hormone receptor interactor 4) - Rat Genome Database

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Gene: TRIP4 (thyroid hormone receptor interactor 4) Homo sapiens
Analyze
Symbol: TRIP4
Name: thyroid hormone receptor interactor 4
RGD ID: 1315680
HGNC Page HGNC:12310
Description: Enables enzyme binding activity; nuclear estrogen receptor binding activity; and transcription coactivator activity. Involved in several processes, including estrogen receptor signaling pathway; rescue of stalled ribosome; and ribosome-associated ubiquitin-dependent protein catabolic process. Located in several cellular components, including centrosome; neuromuscular junction; and nuclear body. Part of activating signal cointegrator 1 complex.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: activating signal cointegrator 1; ASC-1; ASC1; HsT17391; MDCDC; SMABF1; thyroid receptor interacting protein 4; thyroid receptor-interacting protein 4; TR-interacting protein 4; TRIP-4; ZC2HC5; zinc finger, C2HC5-type
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: AL390205.1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381564,387,836 - 64,455,303 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1564,387,748 - 64,455,303 (+)EnsemblGRCh38hg38GRCh38
GRCh371564,680,035 - 64,747,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361562,467,073 - 62,534,555 (+)NCBINCBI36Build 36hg18NCBI36
Build 341562,467,072 - 62,534,553NCBI
Celera1541,558,018 - 41,625,175 (+)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1541,503,896 - 41,571,686 (+)NCBIHuRef
CHM1_11564,799,393 - 64,866,848 (+)NCBICHM1_1
T2T-CHM13v2.01562,197,257 - 62,264,725 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal elasticity of skin  (IAGP)
Angulated muscle fibers  (IAGP)
Areflexia  (IAGP)
Arthrogryposis multiplex congenita  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial muscle weakness  (IAGP)
Axonal loss  (IAGP)
Cardiomyopathy  (IAGP)
Centrally nucleated skeletal muscle fibers  (IAGP)
Congenital onset  (IAGP)
Congestive heart failure  (IAGP)
Cryptorchidism  (IAGP)
Decreased fetal movement  (IAGP)
Delayed puberty  (IAGP)
Delayed speech and language development  (IAGP)
Diaphragmatic eventration  (IAGP)
Dry skin  (IAGP)
Dysphagia  (IAGP)
EMG: myopathic abnormalities  (IAGP)
Feeding difficulties  (IAGP)
Flexion contracture  (IAGP)
Follicular hyperkeratosis  (IAGP)
Gastroesophageal reflux  (IAGP)
Gastrostomy tube feeding in infancy  (IAGP)
Generalized amyotrophy  (IAGP)
Generalized hypotonia  (IAGP)
Global developmental delay  (IAGP)
High palate  (IAGP)
Hypertelorism  (IAGP)
Hypohidrosis  (IAGP)
Hypotonia  (IAGP)
Inability to walk  (IAGP)
Increased endomysial connective tissue  (IAGP)
Increased variability in muscle fiber diameter  (IAGP)
Joint contracture  (IAGP)
Joint hypermobility  (IAGP)
Limb muscle weakness  (IAGP)
Microretrognathia  (IAGP)
Mildly elevated creatine kinase  (IAGP)
Minicore myopathy  (IAGP)
Motor delay  (IAGP)
Multiple joint contractures  (IAGP)
Multiple prenatal fractures  (IAGP)
Muscle fiber atrophy  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Narrow mouth  (IAGP)
Neck muscle weakness  (IAGP)
Neonatal onset  (IAGP)
Neonatal respiratory distress  (IAGP)
Oligohydramnios  (IAGP)
Overweight  (IAGP)
Patent ductus arteriosus  (IAGP)
Patent foramen ovale  (IAGP)
Pectus excavatum  (IAGP)
Peripheral axonal neuropathy  (IAGP)
Pes valgus  (IAGP)
Poor head control  (IAGP)
Premature birth  (IAGP)
Pulmonary hypoplasia  (IAGP)
Recurrent respiratory infections  (IAGP)
Reduced forced vital capacity  (IAGP)
Respiratory insufficiency due to muscle weakness  (IAGP)
Scoliosis  (IAGP)
Secundum atrial septal defect  (IAGP)
Severe muscular hypotonia  (IAGP)
Spinal muscular atrophy  (IAGP)
Spinal rigidity  (IAGP)
Weak cry  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
Additional References at PubMed
PMID:7776974   PMID:10454579   PMID:11500849   PMID:12077347   PMID:12390891   PMID:12477932   PMID:15489334   PMID:15592455   PMID:16344560   PMID:18029348   PMID:19074642   PMID:19596656  
PMID:20133760   PMID:20211142   PMID:20873783   PMID:21873635   PMID:21988832   PMID:24162737   PMID:24495969   PMID:25192599   PMID:25219498   PMID:25921289   PMID:26186194   PMID:26344197  
PMID:26496610   PMID:26673895   PMID:26924529   PMID:27008887   PMID:27684187   PMID:28190767   PMID:28514442   PMID:28899685   PMID:28977666   PMID:29229926   PMID:29395067   PMID:29509190  
PMID:30471916   PMID:30905820   PMID:31091453   PMID:31527615   PMID:31753913   PMID:31794073   PMID:32099016   PMID:32298598   PMID:32393512   PMID:32579943   PMID:32807901   PMID:33060197  
PMID:33187986   PMID:33306668   PMID:33957083   PMID:33961781   PMID:34079125   PMID:34204919   PMID:34244565   PMID:34315543   PMID:34316702   PMID:34597346   PMID:34672954   PMID:35271311  
PMID:35276412   PMID:35439318   PMID:36215168   PMID:36232890   PMID:36244648   PMID:36302773   PMID:37071682   PMID:37689310   PMID:37718780   PMID:38582862   PMID:38803224  


Genomics

Comparative Map Data
TRIP4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381564,387,836 - 64,455,303 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1564,387,748 - 64,455,303 (+)EnsemblGRCh38hg38GRCh38
GRCh371564,680,035 - 64,747,502 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361562,467,073 - 62,534,555 (+)NCBINCBI36Build 36hg18NCBI36
Build 341562,467,072 - 62,534,553NCBI
Celera1541,558,018 - 41,625,175 (+)NCBICelera
Cytogenetic Map15q22.31NCBI
HuRef1541,503,896 - 41,571,686 (+)NCBIHuRef
CHM1_11564,799,393 - 64,866,848 (+)NCBICHM1_1
T2T-CHM13v2.01562,197,257 - 62,264,725 (+)NCBIT2T-CHM13v2.0
Trip4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39965,736,208 - 65,816,150 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl965,736,212 - 65,816,076 (-)EnsemblGRCm39 Ensembl
GRCm38965,828,926 - 65,908,875 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl965,828,930 - 65,908,794 (-)EnsemblGRCm38mm10GRCm38
MGSCv37965,676,733 - 65,756,601 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36965,630,231 - 65,706,792 (-)NCBIMGSCv36mm8
Celera963,066,228 - 63,147,772 (-)NCBICelera
Cytogenetic Map9CNCBI
cM Map935.55NCBI
Trip4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8875,248,352 - 75,334,802 (-)NCBIGRCr8
mRatBN7.2866,351,861 - 66,439,679 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl866,353,248 - 66,439,774 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx871,866,633 - 71,952,792 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0870,139,665 - 70,225,856 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0868,008,669 - 68,095,021 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0871,369,121 - 71,533,281 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl871,371,370 - 71,533,459 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0871,147,159 - 71,205,615 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Rnor_5.0871,051,695 - 71,058,129 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4870,090,427 - 70,179,003 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1870,109,684 - 70,178,264 (-)NCBI
Celera865,743,666 - 65,829,403 (-)NCBICelera
Cytogenetic Map8q24NCBI
Trip4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495545011,005,849 - 11,088,192 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495545011,005,842 - 11,088,192 (-)NCBIChiLan1.0ChiLan1.0
TRIP4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21653,638,042 - 53,706,205 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11557,809,510 - 57,877,664 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01543,332,107 - 43,400,522 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11561,623,584 - 61,692,963 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1561,623,584 - 61,692,963 (+)Ensemblpanpan1.1panPan2
TRIP4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.13028,851,314 - 28,908,991 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl3028,851,374 - 28,908,940 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha3028,769,986 - 28,827,270 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.03029,027,010 - 29,084,143 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl3029,027,049 - 29,085,048 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.13028,961,531 - 29,018,821 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.03029,023,404 - 29,080,801 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.03029,263,181 - 29,320,616 (+)NCBIUU_Cfam_GSD_1.0
Trip4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024408640106,947,656 - 107,021,867 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647124,811,841 - 24,869,966 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647124,795,718 - 24,868,440 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRIP4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1107,588,492 - 107,654,639 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11107,588,778 - 107,654,679 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21118,414,252 - 118,618,557 (-)NCBISscrofa10.2Sscrofa10.2susScr3
TRIP4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12619,065,934 - 19,133,489 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2619,065,887 - 19,133,448 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_023666048122,266,727 - 122,338,215 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trip4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247818,118,387 - 8,192,637 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247818,118,382 - 8,191,823 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRIP4
208 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_016213.5(TRIP4):c.1576-242_1576-240dup duplication not provided [RCV001581964] Chr15:64444746..64444747 [GRCh38]
Chr15:64736945..64736946 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh38/hg38 15q22.31(chr15:64448836-65975439)x3 copy number gain See cases [RCV000052344] Chr15:64448836..65975439 [GRCh38]
Chr15:64741035..66267777 [GRCh37]
Chr15:62528088..64054831 [NCBI36]
Chr15:15q22.31		 pathogenic
NM_016213.4(TRIP4):c.379G>C (p.Val127Leu) single nucleotide variant Malignant melanoma [RCV000062906] Chr15:64395505 [GRCh38]
Chr15:64687704 [GRCh37]
Chr15:62474757 [NCBI36]
Chr15:15q22.31		 not provided
NM_016213.5(TRIP4):c.1465C>T (p.Arg489Cys) single nucleotide variant Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV001332114]|Inborn genetic diseases [RCV002546532]|not provided [RCV002546531] Chr15:64424137 [GRCh38]
Chr15:64716336 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3 copy number gain See cases [RCV000142915] Chr15:59828460..101920998 [GRCh38]
Chr15:60120659..102461201 [GRCh37]
Chr15:57907951..100278724 [NCBI36]
Chr15:15q22.2-26.3		 pathogenic
NM_016213.5(TRIP4):c.832C>T (p.Arg278Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV000210261]|not specified [RCV000790985] Chr15:64409617 [GRCh38]
Chr15:64701816 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.760C>T (p.Arg254Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV000210281] Chr15:64406392 [GRCh38]
Chr15:64698591 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
GRCh37/hg19 15q22.31(chr15:64673133-65273595)x3 copy number gain See cases [RCV000240068] Chr15:64673133..65273595 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.950G>A (p.Arg317Gln) single nucleotide variant Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV000239524] Chr15:64409735 [GRCh38]
Chr15:64701934 [GRCh37]
Chr15:15q22.31		 pathogenic
GRCh37/hg19 15q22.31-26.3(chr15:64637227-102509910)x3 copy number gain See cases [RCV000240602] Chr15:64637227..102509910 [GRCh37]
Chr15:15q22.31-26.3		 pathogenic
NM_016213.5(TRIP4):c.405+224T>C single nucleotide variant not provided [RCV001572004] Chr15:64395755 [GRCh38]
Chr15:64687954 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3 copy number gain not provided [RCV000415836] Chr15:59297293..102480888 [GRCh37]
Chr15:15q22.1-26.3		 likely pathogenic
GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4 copy number gain See cases [RCV000447123] Chr15:41745084..102354798 [GRCh37]
Chr15:15q15.1-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4 copy number gain See cases [RCV000447765] Chr15:20733395..102511616 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV000989343]|not provided [RCV000498698] Chr15:64409710 [GRCh38]
Chr15:64701909 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3 copy number gain See cases [RCV000510717] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112) copy number gain See cases [RCV000512019] Chr15:22770422..102429112 [GRCh37]
Chr15:15q11.2-26.3		 pathogenic
NM_016213.5(TRIP4):c.1664G>A (p.Gly555Glu) single nucleotide variant Inborn genetic diseases [RCV003292752]|not provided [RCV003669375] Chr15:64445094 [GRCh38]
Chr15:64737293 [GRCh37]
Chr15:15q22.31		 uncertain significance
Single allele duplication not provided [RCV000677926] Chr15:31115047..102354857 [GRCh37]
Chr15:15q13.2-26.3		 pathogenic
NM_016213.5(TRIP4):c.976G>T (p.Val326Phe) single nucleotide variant not provided [RCV000658719] Chr15:64409761 [GRCh38]
Chr15:64701960 [GRCh37]
Chr15:15q22.31		 uncertain significance
Single allele deletion Nemaline myopathy 6 [RCV000677940] Chr15:63414894..66439797 [GRCh37]
Chr15:15q22.2-22.31		 likely pathogenic
NM_016213.5(TRIP4):c.350C>T (p.Ala117Val) single nucleotide variant not provided [RCV000677296] Chr15:64395476 [GRCh38]
Chr15:64687675 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1255C>T (p.Gln419Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV001731134] Chr15:64418625 [GRCh38]
Chr15:64710824 [GRCh37]
Chr15:15q22.31		 likely pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20071673-102461162)x3 copy number gain not provided [RCV000751156] Chr15:20071673..102461162 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
GRCh37/hg19 15q11.1-26.3(chr15:20016811-102493540)x3 copy number gain not provided [RCV000751155] Chr15:20016811..102493540 [GRCh37]
Chr15:15q11.1-26.3		 pathogenic
NM_016213.5(TRIP4):c.619-11C>G single nucleotide variant not provided [RCV001644388] Chr15:64400732 [GRCh38]
Chr15:64692931 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.619-287A>G single nucleotide variant not provided [RCV001648263] Chr15:64400456 [GRCh38]
Chr15:64692655 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.102-47del deletion not provided [RCV001534009] Chr15:64393899 [GRCh38]
Chr15:64686098 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1170+192T>C single nucleotide variant not provided [RCV001666416] Chr15:64414403 [GRCh38]
Chr15:64706602 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.271+73T>A single nucleotide variant not provided [RCV001725372] Chr15:64394188 [GRCh38]
Chr15:64686387 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.272-290dup duplication not provided [RCV001667933] Chr15:64395105..64395106 [GRCh38]
Chr15:64687304..64687305 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1170+18C>G single nucleotide variant not provided [RCV001642188] Chr15:64414229 [GRCh38]
Chr15:64706428 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1576-180G>C single nucleotide variant not provided [RCV001570430] Chr15:64444826 [GRCh38]
Chr15:64737025 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.101+229A>G single nucleotide variant not provided [RCV001585305] Chr15:64388193 [GRCh38]
Chr15:64680392 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.697+40G>A single nucleotide variant not provided [RCV001568930] Chr15:64400861 [GRCh38]
Chr15:64693060 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.101+246A>G single nucleotide variant not provided [RCV001568944] Chr15:64388210 [GRCh38]
Chr15:64680409 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.101+8C>T single nucleotide variant TRIP4-related disorder [RCV004551705]|not provided [RCV000899015] Chr15:64387972 [GRCh38]
Chr15:64680171 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1194C>T (p.Ala398=) single nucleotide variant not provided [RCV000901739] Chr15:64418564 [GRCh38]
Chr15:64710763 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.1072A>G (p.Asn358Asp) single nucleotide variant TRIP4-related disorder [RCV004550011]|not provided [RCV000880893] Chr15:64414113 [GRCh38]
Chr15:64706312 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1389C>T (p.His463=) single nucleotide variant not provided [RCV000923308] Chr15:64424061 [GRCh38]
Chr15:64716260 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.258C>T (p.Cys86=) single nucleotide variant not provided [RCV000882051] Chr15:64394102 [GRCh38]
Chr15:64686301 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.924G>A (p.Lys308=) single nucleotide variant TRIP4-related disorder [RCV004553373]|not provided [RCV000942913] Chr15:64409709 [GRCh38]
Chr15:64701908 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.102-4T>C single nucleotide variant not provided [RCV000920968] Chr15:64393942 [GRCh38]
Chr15:64686141 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.255G>A (p.Gln85=) single nucleotide variant TRIP4-related disorder [RCV004553446]|not provided [RCV000962513] Chr15:64394099 [GRCh38]
Chr15:64686298 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.369G>T (p.Thr123=) single nucleotide variant not provided [RCV000940439] Chr15:64395495 [GRCh38]
Chr15:64687694 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.582A>G (p.Gln194=) single nucleotide variant not provided [RCV000959937] Chr15:64397782 [GRCh38]
Chr15:64689981 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.954C>T (p.His318=) single nucleotide variant not provided [RCV000896033] Chr15:64409739 [GRCh38]
Chr15:64701938 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.452A>G (p.Asn151Ser) single nucleotide variant not provided [RCV000914575] Chr15:64397652 [GRCh38]
Chr15:64689851 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.369G>A (p.Thr123=) single nucleotide variant not provided [RCV000886931] Chr15:64395495 [GRCh38]
Chr15:64687694 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.981C>T (p.Thr327=) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV002507557]|not provided [RCV000881558] Chr15:64409766 [GRCh38]
Chr15:64701965 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.1483+9C>T single nucleotide variant not provided [RCV000923331] Chr15:64424164 [GRCh38]
Chr15:64716363 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1679-7C>T single nucleotide variant not provided [RCV000899792] Chr15:64454990 [GRCh38]
Chr15:64747189 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1484-4T>A single nucleotide variant not provided [RCV000917044] Chr15:64425536 [GRCh38]
Chr15:64717735 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1539A>G (p.Leu513=) single nucleotide variant not provided [RCV000918772] Chr15:64425595 [GRCh38]
Chr15:64717794 [GRCh37]
Chr15:15q22.31		 likely benign
GRCh37/hg19 15q22.31(chr15:64644933-64736092)x1 copy number loss not provided [RCV001006704] Chr15:64644933..64736092 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1460_1463del (p.Thr487fs) deletion not provided [RCV001008319] Chr15:64424130..64424133 [GRCh38]
Chr15:64716329..64716332 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_016213.5(TRIP4):c.697+30G>A single nucleotide variant not provided [RCV001570182] Chr15:64400851 [GRCh38]
Chr15:64693050 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1043+196_1043+197insA insertion not provided [RCV001583609] Chr15:64410024..64410025 [GRCh38]
Chr15:64702223..64702224 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.828-113_828-112del deletion not provided [RCV001555170] Chr15:64409500..64409501 [GRCh38]
Chr15:64701699..64701700 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.102-212C>T single nucleotide variant not provided [RCV001590509] Chr15:64393734 [GRCh38]
Chr15:64685933 [GRCh37]
Chr15:15q22.31		 likely benign
NC_000015.10:g.64387740G>A single nucleotide variant not provided [RCV001555674] Chr15:64387740 [GRCh38]
Chr15:64679939 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.697+114_697+115del deletion not provided [RCV001534537] Chr15:64400935..64400936 [GRCh38]
Chr15:64693134..64693135 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1359-166T>C single nucleotide variant not provided [RCV001561454] Chr15:64423865 [GRCh38]
Chr15:64716064 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1043+215dup duplication not provided [RCV001545497] Chr15:64410024..64410025 [GRCh38]
Chr15:64702223..64702224 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1576-241_1576-240dup duplication not provided [RCV001596817] Chr15:64444746..64444747 [GRCh38]
Chr15:64736945..64736946 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1305G>C (p.Trp435Cys) single nucleotide variant not provided [RCV001645847] Chr15:64418675 [GRCh38]
Chr15:64710874 [GRCh37]
Chr15:15q22.31		 benign|likely benign|conflicting interpretations of pathogenicity
NM_016213.5(TRIP4):c.827+178A>G single nucleotide variant not provided [RCV001562004] Chr15:64406637 [GRCh38]
Chr15:64698836 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1044-25G>A single nucleotide variant Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV001838804]|Spinal muscular atrophy with congenital bone fractures 1 [RCV001838803]|not provided [RCV001696109] Chr15:64414060 [GRCh38]
Chr15:64706259 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1575+35G>A single nucleotide variant not provided [RCV001563221] Chr15:64425666 [GRCh38]
Chr15:64717865 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=) single nucleotide variant Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV001838817]|Spinal muscular atrophy with congenital bone fractures 1 [RCV001838816]|not provided [RCV001710434] Chr15:64445026 [GRCh38]
Chr15:64737225 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1358+247C>T single nucleotide variant not provided [RCV001609207] Chr15:64418975 [GRCh38]
Chr15:64711174 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.101+228C>A single nucleotide variant not provided [RCV001650379] Chr15:64388192 [GRCh38]
Chr15:64680391 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1678+325C>T single nucleotide variant not provided [RCV001611904] Chr15:64445433 [GRCh38]
Chr15:64737632 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1387C>A (p.His463Asn) single nucleotide variant not provided [RCV001552981] Chr15:64424059 [GRCh38]
Chr15:64716258 [GRCh37]
Chr15:15q22.31		 likely benign|conflicting interpretations of pathogenicity
NC_000015.9:g.(?_62146656)_(64747263_?)del deletion not provided [RCV003107781] Chr15:62146656..64747263 [GRCh37]
Chr15:15q22.2-22.31		 pathogenic
NM_016213.5(TRIP4):c.484G>T (p.Ala162Ser) single nucleotide variant not provided [RCV000907997] Chr15:64397684 [GRCh38]
Chr15:64689883 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.393T>C (p.Phe131=) single nucleotide variant TRIP4-related disorder [RCV004551872]|not provided [RCV000927183] Chr15:64395519 [GRCh38]
Chr15:64687718 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.21G>C (p.Val7=) single nucleotide variant TRIP4-related disorder [RCV004553421]|not provided [RCV000957302] Chr15:64387884 [GRCh38]
Chr15:64680083 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.951A>G (p.Arg317=) single nucleotide variant not provided [RCV000911508] Chr15:64409736 [GRCh38]
Chr15:64701935 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1170+275A>G single nucleotide variant not provided [RCV001562865] Chr15:64414486 [GRCh38]
Chr15:64706685 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1165C>T (p.Pro389Ser) single nucleotide variant Inborn genetic diseases [RCV002570681]|not provided [RCV001548429] Chr15:64414206 [GRCh38]
Chr15:64706405 [GRCh37]
Chr15:15q22.31		 conflicting interpretations of pathogenicity|uncertain significance
NM_016213.5(TRIP4):c.1678+304G>A single nucleotide variant not provided [RCV001593936] Chr15:64445412 [GRCh38]
Chr15:64737611 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1258T>C (p.Leu420=) single nucleotide variant not provided [RCV001709856] Chr15:64418628 [GRCh38]
Chr15:64710827 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.828-16G>C single nucleotide variant not provided [RCV001550594] Chr15:64409597 [GRCh38]
Chr15:64701796 [GRCh37]
Chr15:15q22.31		 benign|likely benign
NM_016213.5(TRIP4):c.779del (p.Glu260fs) deletion not provided [RCV001009251] Chr15:64406411 [GRCh38]
Chr15:64698610 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_016213.5(TRIP4):c.405+224del deletion not provided [RCV001678153] Chr15:64395740 [GRCh38]
Chr15:64687939 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1484-267T>A single nucleotide variant not provided [RCV001581012] Chr15:64425273 [GRCh38]
Chr15:64717472 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.36G>A (p.Leu12=) single nucleotide variant not provided [RCV001596358] Chr15:64387899 [GRCh38]
Chr15:64680098 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1043+141G>A single nucleotide variant not provided [RCV001714913] Chr15:64409969 [GRCh38]
Chr15:64702168 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.*190G>C single nucleotide variant not provided [RCV001593744] Chr15:64455254 [GRCh38]
Chr15:64747453 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1092A>G (p.Pro364=) single nucleotide variant not provided [RCV001676594] Chr15:64414133 [GRCh38]
Chr15:64706332 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1576-102G>C single nucleotide variant not provided [RCV001645635] Chr15:64444904 [GRCh38]
Chr15:64737103 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.828-121_828-116del deletion not provided [RCV001587804] Chr15:64409492..64409497 [GRCh38]
Chr15:64701691..64701696 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1678+26G>A single nucleotide variant not provided [RCV001691555] Chr15:64445134 [GRCh38]
Chr15:64737333 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.619-254del deletion not provided [RCV001615760] Chr15:64400474 [GRCh38]
Chr15:64692673 [GRCh37]
Chr15:15q22.31		 benign
NC_000015.10:g.64387691G>A single nucleotide variant not provided [RCV001586935] Chr15:64387691 [GRCh38]
Chr15:64679890 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.462_463del (p.Glu156fs) deletion not provided [RCV001235672] Chr15:64397662..64397663 [GRCh38]
Chr15:64689861..64689862 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.1202A>G (p.Lys401Arg) single nucleotide variant Inborn genetic diseases [RCV002559647]|not provided [RCV001171900] Chr15:64418572 [GRCh38]
Chr15:64710771 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1065del (p.Ile356fs) deletion Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV001254724] Chr15:64414105 [GRCh38]
Chr15:64706304 [GRCh37]
Chr15:15q22.31		 uncertain significance
GRCh37/hg19 15q22.31(chr15:64705736-65178188)x3 copy number gain not provided [RCV001259705] Chr15:64705736..65178188 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.697+137dup duplication not provided [RCV001642027] Chr15:64400950..64400951 [GRCh38]
Chr15:64693149..64693150 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1679-11C>A single nucleotide variant not provided [RCV001575639] Chr15:64454986 [GRCh38]
Chr15:64747185 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1378T>C (p.Tyr460His) single nucleotide variant Inborn genetic diseases [RCV004684919] Chr15:64424050 [GRCh38]
Chr15:64716249 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.26G>A (p.Gly9Glu) single nucleotide variant Inborn genetic diseases [RCV004684918] Chr15:64387889 [GRCh38]
Chr15:64680088 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_32964879)_(91358519_?)dup duplication Bloom syndrome [RCV001343104]|Familial colorectal cancer [RCV001325176] Chr15:32964879..91358519 [GRCh37]
Chr15:15q13.3-26.1		 uncertain significance
NM_016213.5(TRIP4):c.827+277C>T single nucleotide variant not provided [RCV001540365] Chr15:64406736 [GRCh38]
Chr15:64698935 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1044-134G>A single nucleotide variant not provided [RCV001590350] Chr15:64413951 [GRCh38]
Chr15:64706150 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1576-240dup duplication not provided [RCV001618909] Chr15:64444746..64444747 [GRCh38]
Chr15:64736945..64736946 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1358+110C>A single nucleotide variant not provided [RCV001665219] Chr15:64418838 [GRCh38]
Chr15:64711037 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1171-162T>C single nucleotide variant not provided [RCV001587654] Chr15:64418379 [GRCh38]
Chr15:64710578 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.271+118G>A single nucleotide variant not provided [RCV001696314] Chr15:64394233 [GRCh38]
Chr15:64686432 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1192G>A (p.Ala398Thr) single nucleotide variant Inborn genetic diseases [RCV004040058]|not provided [RCV001756260] Chr15:64418562 [GRCh38]
Chr15:64710761 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.180del (p.Gly61fs) deletion TRIP4-related disorder [RCV004552020]|not provided [RCV001783912] Chr15:64394019 [GRCh38]
Chr15:64686218 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_016213.5(TRIP4):c.35T>G (p.Leu12Arg) single nucleotide variant TRIP4-related disorder [RCV004738370]|not provided [RCV001763276] Chr15:64387898 [GRCh38]
Chr15:64680097 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.4:c.1359_1575del deletion Spinal muscular atrophy with congenital bone fractures 1 [RCV001731133]   likely pathogenic
NM_016213.5(TRIP4):c.136C>T (p.Arg46Ter) single nucleotide variant not provided [RCV003727188] Chr15:64393980 [GRCh38]
Chr15:64686179 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_016213.5(TRIP4):c.1253A>G (p.His418Arg) single nucleotide variant not provided [RCV001770730] Chr15:64418623 [GRCh38]
Chr15:64710822 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.534C>G (p.His178Gln) single nucleotide variant not provided [RCV001752209] Chr15:64397734 [GRCh38]
Chr15:64689933 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.298G>A (p.Asp100Asn) single nucleotide variant Inborn genetic diseases [RCV002539147]|not provided [RCV001752719] Chr15:64395424 [GRCh38]
Chr15:64687623 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.761G>A (p.Arg254Gln) single nucleotide variant not provided [RCV001761045] Chr15:64406393 [GRCh38]
Chr15:64698592 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.952C>A (p.His318Asn) single nucleotide variant not provided [RCV001765757] Chr15:64409737 [GRCh38]
Chr15:64701936 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.530A>G (p.Lys177Arg) single nucleotide variant TRIP4-related disorder [RCV004738371]|not provided [RCV001763277] Chr15:64397730 [GRCh38]
Chr15:64689929 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.512G>A (p.Cys171Tyr) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV001794860] Chr15:64397712 [GRCh38]
Chr15:64689911 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1678+1_1678+2insC insertion Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome [RCV001794861] Chr15:64445109..64445110 [GRCh38]
Chr15:64737308..64737309 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.336_339del (p.Gln113fs) microsatellite Spinal muscular atrophy with congenital bone fractures 1 [RCV003389340]|not provided [RCV001785089] Chr15:64395458..64395461 [GRCh38]
Chr15:64687657..64687660 [GRCh37]
Chr15:15q22.31		 pathogenic|likely pathogenic
NM_016213.5(TRIP4):c.1126T>G (p.Leu376Val) single nucleotide variant not provided [RCV001756917] Chr15:64414167 [GRCh38]
Chr15:64706366 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.565C>T (p.Arg189Cys) single nucleotide variant Inborn genetic diseases [RCV002555361]|not provided [RCV001927722] Chr15:64397765 [GRCh38]
Chr15:64689964 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.49A>G (p.Thr17Ala) single nucleotide variant not provided [RCV002043845] Chr15:64387912 [GRCh38]
Chr15:64680111 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.31C>T (p.Pro11Ser) single nucleotide variant not provided [RCV001872808] Chr15:64387894 [GRCh38]
Chr15:64680093 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.427G>A (p.Val143Ile) single nucleotide variant not provided [RCV002018036] Chr15:64397627 [GRCh38]
Chr15:64689826 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.410A>G (p.Gln137Arg) single nucleotide variant not provided [RCV002016351] Chr15:64397610 [GRCh38]
Chr15:64689809 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1723A>G (p.Met575Val) single nucleotide variant Inborn genetic diseases [RCV003167364]|not provided [RCV001944088] Chr15:64455041 [GRCh38]
Chr15:64747240 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.20T>C (p.Val7Ala) single nucleotide variant Inborn genetic diseases [RCV004039608]|not provided [RCV001870445] Chr15:64387883 [GRCh38]
Chr15:64680082 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_016213.5(TRIP4):c.1484-2A>C single nucleotide variant not provided [RCV001989370] Chr15:64425538 [GRCh38]
Chr15:64717737 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_016213.5(TRIP4):c.1191A>G (p.Ala397=) single nucleotide variant not provided [RCV001884794] Chr15:64418561 [GRCh38]
Chr15:64710760 [GRCh37]
Chr15:15q22.31		 likely benign|uncertain significance
NM_016213.5(TRIP4):c.367A>G (p.Thr123Ala) single nucleotide variant not provided [RCV001880980] Chr15:64395493 [GRCh38]
Chr15:64687692 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.406-6C>T single nucleotide variant not provided [RCV002090065] Chr15:64397600 [GRCh38]
Chr15:64689799 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1575+26dup duplication not provided [RCV002186876] Chr15:64425646..64425647 [GRCh38]
Chr15:64717845..64717846 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1359-8T>G single nucleotide variant not provided [RCV002129851] Chr15:64424023 [GRCh38]
Chr15:64716222 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1358+11A>G single nucleotide variant not provided [RCV002148404] Chr15:64418739 [GRCh38]
Chr15:64710938 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.942A>G (p.Arg314=) single nucleotide variant not provided [RCV003115405] Chr15:64409727 [GRCh38]
Chr15:64701926 [GRCh37]
Chr15:15q22.31		 benign
NC_000015.9:g.(?_64680063)_(64680183_?)del deletion not provided [RCV003119720] Chr15:64680063..64680183 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.890G>A (p.Trp297Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV004017913]|not provided [RCV002262478] Chr15:64409675 [GRCh38]
Chr15:64701874 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.112T>A (p.Ser38Thr) single nucleotide variant not provided [RCV002297580] Chr15:64393956 [GRCh38]
Chr15:64686155 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.265A>T (p.Lys89Ter) single nucleotide variant Spinal muscular atrophy with congenital bone fractures 1 [RCV002463879] Chr15:64394109 [GRCh38]
Chr15:64686308 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.445T>C (p.Phe149Leu) single nucleotide variant not provided [RCV003480135] Chr15:64397645 [GRCh38]
Chr15:64689844 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1276G>A (p.Glu426Lys) single nucleotide variant not provided [RCV003480136] Chr15:64418646 [GRCh38]
Chr15:64710845 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.571G>A (p.Val191Ile) single nucleotide variant not provided [RCV002298340] Chr15:64397771 [GRCh38]
Chr15:64689970 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1261C>T (p.Arg421Ter) single nucleotide variant not provided [RCV002681955] Chr15:64418631 [GRCh38]
Chr15:64710830 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.492G>A (p.Leu164=) single nucleotide variant not provided [RCV002613469] Chr15:64397692 [GRCh38]
Chr15:64689891 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.245C>T (p.Pro82Leu) single nucleotide variant Inborn genetic diseases [RCV002732782] Chr15:64394089 [GRCh38]
Chr15:64686288 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1116T>C (p.Ser372=) single nucleotide variant not provided [RCV002685569] Chr15:64414157 [GRCh38]
Chr15:64706356 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1359-7_1359-4del deletion not provided [RCV002994674] Chr15:64424021..64424024 [GRCh38]
Chr15:64716220..64716223 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1066A>G (p.Ile356Val) single nucleotide variant not provided [RCV002839326] Chr15:64414107 [GRCh38]
Chr15:64706306 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1450C>T (p.Leu484Phe) single nucleotide variant Inborn genetic diseases [RCV002837156] Chr15:64424122 [GRCh38]
Chr15:64716321 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.222T>C (p.Asn74=) single nucleotide variant not provided [RCV002616980] Chr15:64394066 [GRCh38]
Chr15:64686265 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1032G>A (p.Glu344=) single nucleotide variant not provided [RCV002863639] Chr15:64409817 [GRCh38]
Chr15:64702016 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.106G>A (p.Val36Ile) single nucleotide variant not provided [RCV002640396] Chr15:64393950 [GRCh38]
Chr15:64686149 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1236G>C (p.Glu412Asp) single nucleotide variant TRIP4-related disorder [RCV004548367]|not provided [RCV002786084] Chr15:64418606 [GRCh38]
Chr15:64710805 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.368C>T (p.Thr123Met) single nucleotide variant Inborn genetic diseases [RCV002976362]|not provided [RCV002976363] Chr15:64395494 [GRCh38]
Chr15:64687693 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1359-11A>G single nucleotide variant not provided [RCV002569712] Chr15:64424020 [GRCh38]
Chr15:64716219 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1474C>T (p.Arg492Cys) single nucleotide variant not provided [RCV002637808] Chr15:64424146 [GRCh38]
Chr15:64716345 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.422del (p.Asn141fs) deletion not provided [RCV002824841] Chr15:64397621 [GRCh38]
Chr15:64689820 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.603A>G (p.Leu201=) single nucleotide variant not provided [RCV003020868] Chr15:64397803 [GRCh38]
Chr15:64690002 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1398A>T (p.Arg466=) single nucleotide variant not provided [RCV003002659] Chr15:64424070 [GRCh38]
Chr15:64716269 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1170+5G>C single nucleotide variant not provided [RCV002694804] Chr15:64414216 [GRCh38]
Chr15:64706415 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.898A>G (p.Lys300Glu) single nucleotide variant not provided [RCV002735276] Chr15:64409683 [GRCh38]
Chr15:64701882 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1093C>G (p.Leu365Val) single nucleotide variant Inborn genetic diseases [RCV002869468] Chr15:64414134 [GRCh38]
Chr15:64706333 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.693G>C (p.Met231Ile) single nucleotide variant Inborn genetic diseases [RCV002743138] Chr15:64400817 [GRCh38]
Chr15:64693016 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.101+7A>C single nucleotide variant not provided [RCV002829492] Chr15:64387971 [GRCh38]
Chr15:64680170 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1059A>G (p.Ile353Met) single nucleotide variant Inborn genetic diseases [RCV002853875] Chr15:64414100 [GRCh38]
Chr15:64706299 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.926_937del (p.Arg309_Glu312del) deletion not provided [RCV002932505] Chr15:64409708..64409719 [GRCh38]
Chr15:64701907..64701918 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1322A>T (p.Gln441Leu) single nucleotide variant not provided [RCV003083118] Chr15:64418692 [GRCh38]
Chr15:64710891 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.625A>C (p.Thr209Pro) single nucleotide variant not provided [RCV002594303] Chr15:64400749 [GRCh38]
Chr15:64692948 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.155TCC[1] (p.Leu53del) microsatellite not provided [RCV002741618] Chr15:64393998..64394000 [GRCh38]
Chr15:64686197..64686199 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.678G>A (p.Leu226=) single nucleotide variant not provided [RCV002594122] Chr15:64400802 [GRCh38]
Chr15:64693001 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.271+18T>C single nucleotide variant not provided [RCV002574180] Chr15:64394133 [GRCh38]
Chr15:64686332 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1503C>G (p.Asp501Glu) single nucleotide variant not provided [RCV002595012] Chr15:64425559 [GRCh38]
Chr15:64717758 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1350G>C (p.Gly450=) single nucleotide variant not provided [RCV002741735] Chr15:64418720 [GRCh38]
Chr15:64710919 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1180C>G (p.His394Asp) single nucleotide variant not provided [RCV002667427] Chr15:64418550 [GRCh38]
Chr15:64710749 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1508C>T (p.Pro503Leu) single nucleotide variant not provided [RCV003083424] Chr15:64425564 [GRCh38]
Chr15:64717763 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.816T>C (p.Phe272=) single nucleotide variant not provided [RCV003042412] Chr15:64406448 [GRCh38]
Chr15:64698647 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1709dup (p.Lys572fs) duplication not provided [RCV002872112] Chr15:64455026..64455027 [GRCh38]
Chr15:64747225..64747226 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1678+19dup duplication not provided [RCV002642334] Chr15:64445119..64445120 [GRCh38]
Chr15:64737318..64737319 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.55C>G (p.Gln19Glu) single nucleotide variant not provided [RCV002811802] Chr15:64387918 [GRCh38]
Chr15:64680117 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1366G>C (p.Gly456Arg) single nucleotide variant Inborn genetic diseases [RCV002935703] Chr15:64424038 [GRCh38]
Chr15:64716237 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1474C>A (p.Arg492Ser) single nucleotide variant not provided [RCV002721115] Chr15:64424146 [GRCh38]
Chr15:64716345 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.481C>T (p.Leu161Phe) single nucleotide variant not provided [RCV003060866] Chr15:64397681 [GRCh38]
Chr15:64689880 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.472C>T (p.Gln158Ter) single nucleotide variant not provided [RCV003046862] Chr15:64397672 [GRCh38]
Chr15:64689871 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.5C>T (p.Ala2Val) single nucleotide variant not provided [RCV002577361] Chr15:64387868 [GRCh38]
Chr15:64680067 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.367A>C (p.Thr123Pro) single nucleotide variant Inborn genetic diseases [RCV003269315]|not provided [RCV002937457] Chr15:64395493 [GRCh38]
Chr15:64687692 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1258T>A (p.Leu420Met) single nucleotide variant not provided [RCV002806903] Chr15:64418628 [GRCh38]
Chr15:64710827 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.615T>C (p.Thr205=) single nucleotide variant not provided [RCV002577490] Chr15:64397815 [GRCh38]
Chr15:64690014 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.22T>G (p.Ser8Ala) single nucleotide variant not provided [RCV002671979] Chr15:64387885 [GRCh38]
Chr15:64680084 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.875G>T (p.Ser292Ile) single nucleotide variant not provided [RCV002599027] Chr15:64409660 [GRCh38]
Chr15:64701859 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.874A>G (p.Ser292Gly) single nucleotide variant not provided [RCV002628735] Chr15:64409659 [GRCh38]
Chr15:64701858 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1358+8T>C single nucleotide variant not provided [RCV002598205] Chr15:64418736 [GRCh38]
Chr15:64710935 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.135dup (p.Arg46fs) duplication not provided [RCV002631796] Chr15:64393978..64393979 [GRCh38]
Chr15:64686177..64686178 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.1678+19del deletion not provided [RCV002600924] Chr15:64445120 [GRCh38]
Chr15:64737319 [GRCh37]
Chr15:15q22.31		 benign
NM_016213.5(TRIP4):c.1576-17A>C single nucleotide variant not provided [RCV002630432] Chr15:64444989 [GRCh38]
Chr15:64737188 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.505C>G (p.His169Asp) single nucleotide variant Inborn genetic diseases [RCV002793041] Chr15:64397705 [GRCh38]
Chr15:64689904 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1709C>T (p.Ala570Val) single nucleotide variant not provided [RCV003049190] Chr15:64455027 [GRCh38]
Chr15:64747226 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.908G>A (p.Arg303Gln) single nucleotide variant not provided [RCV003009404] Chr15:64409693 [GRCh38]
Chr15:64701892 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1309C>T (p.Leu437Phe) single nucleotide variant Inborn genetic diseases [RCV002702967] Chr15:64418679 [GRCh38]
Chr15:64710878 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.715A>C (p.Lys239Gln) single nucleotide variant Inborn genetic diseases [RCV002724262] Chr15:64406347 [GRCh38]
Chr15:64698546 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1645G>C (p.Val549Leu) single nucleotide variant Inborn genetic diseases [RCV002725044] Chr15:64445075 [GRCh38]
Chr15:64737274 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1187_1192dup (p.Ala397_Ala398insGlyAla) duplication not provided [RCV002944116] Chr15:64418553..64418554 [GRCh38]
Chr15:64710752..64710753 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.993A>C (p.Ala331=) single nucleotide variant not provided [RCV002658441] Chr15:64409778 [GRCh38]
Chr15:64701977 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1517G>T (p.Cys506Phe) single nucleotide variant not provided [RCV002814312] Chr15:64425573 [GRCh38]
Chr15:64717772 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1575+18T>C single nucleotide variant not provided [RCV002654094] Chr15:64425649 [GRCh38]
Chr15:64717848 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1509G>A (p.Pro503=) single nucleotide variant not provided [RCV003069804] Chr15:64425565 [GRCh38]
Chr15:64717764 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.102-18A>G single nucleotide variant not provided [RCV002586058] Chr15:64393928 [GRCh38]
Chr15:64686127 [GRCh37]
Chr15:15q22.31		 likely benign
NC_000015.9:g.(?_64680002)_(64680164_64686144)del deletion TRIP4-related disorder [RCV003155761] Chr15:64680002..64680164 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_016213.5(TRIP4):c.137G>A (p.Arg46Gln) single nucleotide variant not provided [RCV003142835] Chr15:64393981 [GRCh38]
Chr15:64686180 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.712G>A (p.Gly238Arg) single nucleotide variant not provided [RCV003142836] Chr15:64406344 [GRCh38]
Chr15:64698543 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.272-1G>T single nucleotide variant TRIP4-related disorder [RCV003331756]|not provided [RCV003730527] Chr15:64395397 [GRCh38]
Chr15:64687596 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_016213.5(TRIP4):c.619-9A>G single nucleotide variant not provided [RCV003874282] Chr15:64400734 [GRCh38]
Chr15:64692933 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.160C>T (p.Gln54Ter) single nucleotide variant not provided [RCV003571040] Chr15:64394004 [GRCh38]
Chr15:64686203 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.1636G>A (p.Glu546Lys) single nucleotide variant not provided [RCV003480137] Chr15:64445066 [GRCh38]
Chr15:64737265 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.705G>A (p.Glu235=) single nucleotide variant not provided [RCV003390518] Chr15:64406337 [GRCh38]
Chr15:64698536 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.691A>G (p.Met231Val) single nucleotide variant TRIP4-related disorder [RCV004552620] Chr15:64400815 [GRCh38]
Chr15:64693014 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.402C>A (p.Ala134=) single nucleotide variant not provided [RCV003663321] Chr15:64395528 [GRCh38]
Chr15:64687727 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.644T>C (p.Ile215Thr) single nucleotide variant not provided [RCV003491695] Chr15:64400768 [GRCh38]
Chr15:64692967 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1679-19T>G single nucleotide variant not provided [RCV003882428] Chr15:64454978 [GRCh38]
Chr15:64747177 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.59T>A (p.Leu20Ter) single nucleotide variant not provided [RCV003545862] Chr15:64387922 [GRCh38]
Chr15:64680121 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.156C>G (p.Leu52=) single nucleotide variant not provided [RCV003876501] Chr15:64394000 [GRCh38]
Chr15:64686199 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1182C>G (p.His394Gln) single nucleotide variant not provided [RCV003491696] Chr15:64418552 [GRCh38]
Chr15:64710751 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.474G>A (p.Gln158=) single nucleotide variant not provided [RCV003574508] Chr15:64397674 [GRCh38]
Chr15:64689873 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.618+13T>G single nucleotide variant not provided [RCV003877921] Chr15:64397831 [GRCh38]
Chr15:64690030 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1483+10G>T single nucleotide variant not provided [RCV003571954] Chr15:64424165 [GRCh38]
Chr15:64716364 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.619-16T>C single nucleotide variant not provided [RCV003686485] Chr15:64400727 [GRCh38]
Chr15:64692926 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.827+1G>T single nucleotide variant not provided [RCV003663257] Chr15:64406460 [GRCh38]
Chr15:64698659 [GRCh37]
Chr15:15q22.31		 likely pathogenic
NM_016213.5(TRIP4):c.618+17C>T single nucleotide variant not provided [RCV003839360] Chr15:64397835 [GRCh38]
Chr15:64690034 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.75C>T (p.Gly25=) single nucleotide variant not provided [RCV003699424] Chr15:64387938 [GRCh38]
Chr15:64680137 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1266C>T (p.Ile422=) single nucleotide variant not provided [RCV003726681] Chr15:64418636 [GRCh38]
Chr15:64710835 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1576-10T>C single nucleotide variant not provided [RCV003717128] Chr15:64444996 [GRCh38]
Chr15:64737195 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.899A>T (p.Lys300Ile) single nucleotide variant not provided [RCV003664783] Chr15:64409684 [GRCh38]
Chr15:64701883 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1227T>C (p.Phe409=) single nucleotide variant not provided [RCV003812093] Chr15:64418597 [GRCh38]
Chr15:64710796 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1402del (p.Trp468fs) deletion not provided [RCV003699449] Chr15:64424072 [GRCh38]
Chr15:64716271 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.101+13C>T single nucleotide variant not provided [RCV003666608] Chr15:64387977 [GRCh38]
Chr15:64680176 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1484-4T>G single nucleotide variant not provided [RCV003727394] Chr15:64425536 [GRCh38]
Chr15:64717735 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1631C>T (p.Pro544Leu) single nucleotide variant not provided [RCV003847086] Chr15:64445061 [GRCh38]
Chr15:64737260 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.470G>T (p.Gly157Val) single nucleotide variant not provided [RCV003865596] Chr15:64397670 [GRCh38]
Chr15:64689869 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.777G>A (p.Leu259=) single nucleotide variant not provided [RCV003729518] Chr15:64406409 [GRCh38]
Chr15:64698608 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.807G>A (p.Leu269=) single nucleotide variant not provided [RCV003843183] Chr15:64406439 [GRCh38]
Chr15:64698638 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.10_21dup (p.Val7_Ser8insAlaGlyAlaVal) duplication not provided [RCV003866968] Chr15:64387865..64387866 [GRCh38]
Chr15:64680064..64680065 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1483+10G>A single nucleotide variant not provided [RCV003845327] Chr15:64424165 [GRCh38]
Chr15:64716364 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1396C>T (p.Arg466Ter) single nucleotide variant not provided [RCV003870121] Chr15:64424068 [GRCh38]
Chr15:64716267 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.272-12C>T single nucleotide variant not provided [RCV003843530] Chr15:64395386 [GRCh38]
Chr15:64687585 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.405+16T>C single nucleotide variant not provided [RCV003823858] Chr15:64395547 [GRCh38]
Chr15:64687746 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.143A>G (p.Tyr48Cys) single nucleotide variant not provided [RCV003736517] Chr15:64393987 [GRCh38]
Chr15:64686186 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1098C>T (p.Thr366=) single nucleotide variant not provided [RCV003709148] Chr15:64414139 [GRCh38]
Chr15:64706338 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1679-17A>C single nucleotide variant not provided [RCV003683366] Chr15:64454980 [GRCh38]
Chr15:64747179 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.753A>G (p.Gln251=) single nucleotide variant not provided [RCV003841379] Chr15:64406385 [GRCh38]
Chr15:64698584 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.115A>G (p.Ile39Val) single nucleotide variant TRIP4-related disorder [RCV004548768] Chr15:64393959 [GRCh38]
Chr15:64686158 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.831dup (p.Arg278fs) duplication not provided [RCV003887654] Chr15:64409614..64409615 [GRCh38]
Chr15:64701813..64701814 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.1171-5T>G single nucleotide variant TRIP4-related disorder [RCV004550810] Chr15:64418536 [GRCh38]
Chr15:64710735 [GRCh37]
Chr15:15q22.31		 likely benign
NM_016213.5(TRIP4):c.1024C>G (p.Leu342Val) single nucleotide variant Inborn genetic diseases [RCV004476331] Chr15:64409809 [GRCh38]
Chr15:64702008 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1254C>G (p.His418Gln) single nucleotide variant Inborn genetic diseases [RCV004476332] Chr15:64418624 [GRCh38]
Chr15:64710823 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.23C>G (p.Ser8Cys) single nucleotide variant Inborn genetic diseases [RCV004476333] Chr15:64387886 [GRCh38]
Chr15:64680085 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.314G>T (p.Gly105Val) single nucleotide variant Inborn genetic diseases [RCV004476334] Chr15:64395440 [GRCh38]
Chr15:64687639 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.920A>C (p.Gln307Pro) single nucleotide variant Inborn genetic diseases [RCV004476335] Chr15:64409705 [GRCh38]
Chr15:64701904 [GRCh37]
Chr15:15q22.31		 uncertain significance
NM_016213.5(TRIP4):c.1199del (p.Gln400fs) deletion Centronuclear myopathy [RCV004587613] Chr15:64418569 [GRCh38]
Chr15:64710768 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.55_56insCT (p.Gln19fs) insertion Centronuclear myopathy [RCV004587612] Chr15:64387918..64387919 [GRCh38]
Chr15:64680117..64680118 [GRCh37]
Chr15:15q22.31		 pathogenic
NM_016213.5(TRIP4):c.1720T>A (p.Leu574Ile) single nucleotide variant Inborn genetic diseases [RCV004687705] Chr15:64455038 [GRCh38]
Chr15:64747237 [GRCh37]
Chr15:15q22.31		 uncertain significance
NC_000015.9:g.(?_64701792)_(64706430_?)dup duplication not provided [RCV004583131] Chr15:64701792..64706430 [GRCh37]
Chr15:15q22.31		 likely pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:1384
Count of miRNA genes:655
Interacting mature miRNAs:745
Transcripts:ENST00000261884, ENST00000557834, ENST00000558162, ENST00000558442, ENST00000558820, ENST00000559565, ENST00000559777, ENST00000559833, ENST00000560475, ENST00000560567, ENST00000560920, ENST00000561265
Prediction methods:Microtar, 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.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
407101321GWAS750297_Hage at menarche QTL GWAS750297 (human)5e-09age at menarche156445259164452592Human
407123962GWAS772938_HAlzheimer disease QTL GWAS772938 (human)0.0000004Alzheimer disease156443329164433292Human

Markers in Region
RH78914  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,710,779 - 64,710,901UniSTSGRCh37
Build 361562,497,832 - 62,497,954RGDNCBI36
Celera1541,588,779 - 41,588,901RGD
Cytogenetic Map15q22.31UniSTS
HuRef1541,534,841 - 41,534,963UniSTS
GeneMap99-GB4 RH Map15227.25UniSTS
NCBI RH Map15375.6UniSTS
SGC30293  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371564,747,651 - 64,747,776UniSTSGRCh37
Build 361562,534,704 - 62,534,829RGDNCBI36
Celera1541,625,324 - 41,625,449RGD
Cytogenetic Map15q22.31UniSTS
HuRef1541,571,835 - 41,571,960UniSTS
GeneMap99-GB4 RH Map15222.73UniSTS
Whitehead-RH Map15220.0UniSTS
NCBI RH Map15362.6UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence


Ensembl Acc Id: ENST00000261884   ⟹   ENSP00000261884
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,836 - 64,455,303 (+)Ensembl
Ensembl Acc Id: ENST00000557834
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,836 - 64,397,735 (+)Ensembl
Ensembl Acc Id: ENST00000558162   ⟹   ENSP00000452764
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,424,115 - 64,450,986 (+)Ensembl
Ensembl Acc Id: ENST00000558442
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,862 - 64,394,026 (+)Ensembl
Ensembl Acc Id: ENST00000558820   ⟹   ENSP00000452675
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,855 - 64,409,684 (+)Ensembl
Ensembl Acc Id: ENST00000559565
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,753 - 64,409,802 (+)Ensembl
Ensembl Acc Id: ENST00000559777
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,444,659 - 64,455,236 (+)Ensembl
Ensembl Acc Id: ENST00000559833
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,748 - 64,397,760 (+)Ensembl
Ensembl Acc Id: ENST00000560475   ⟹   ENSP00000454558
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,409,718 - 64,455,303 (+)Ensembl
Ensembl Acc Id: ENST00000560567   ⟹   ENSP00000453106
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,859 - 64,424,330 (+)Ensembl
Ensembl Acc Id: ENST00000560920   ⟹   ENSP00000453276
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,387,862 - 64,400,821 (+)Ensembl
Ensembl Acc Id: ENST00000561265
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1564,393,696 - 64,409,805 (+)Ensembl
RefSeq Acc Id: NM_001321924   ⟹   NP_001308853
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381564,387,836 - 64,455,303 (+)NCBI
CHM1_11564,799,399 - 64,866,848 (+)NCBI
T2T-CHM13v2.01562,197,257 - 62,264,725 (+)NCBI
Sequence:
RefSeq Acc Id: NM_016213   ⟹   NP_057297
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381564,387,836 - 64,455,303 (+)NCBI
GRCh371564,680,003 - 64,747,502 (+)RGD
Build 361562,467,073 - 62,534,555 (+)NCBI Archive
Celera1541,558,018 - 41,625,175 (+)RGD
HuRef1541,503,896 - 41,571,686 (+)ENTREZGENE
CHM1_11564,799,393 - 64,866,848 (+)NCBI
T2T-CHM13v2.01562,197,257 - 62,264,725 (+)NCBI
Sequence:
RefSeq Acc Id: NR_135855
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381564,387,836 - 64,455,303 (+)NCBI
CHM1_11564,799,393 - 64,866,848 (+)NCBI
T2T-CHM13v2.01562,197,257 - 62,264,725 (+)NCBI
Sequence:
RefSeq Acc Id: NP_057297   ⟸   NM_016213
- Peptide Label: isoform 1
- UniProtKB: Q96ED7 (UniProtKB/Swiss-Prot),   B2RAS0 (UniProtKB/Swiss-Prot),   Q9UKH0 (UniProtKB/Swiss-Prot),   Q15650 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001308853   ⟸   NM_001321924
- Peptide Label: isoform 2
- UniProtKB: Q15650 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000452764   ⟸   ENST00000558162
Ensembl Acc Id: ENSP00000452675   ⟸   ENST00000558820
Ensembl Acc Id: ENSP00000453106   ⟸   ENST00000560567
Ensembl Acc Id: ENSP00000454558   ⟸   ENST00000560475
Ensembl Acc Id: ENSP00000453276   ⟸   ENST00000560920
Ensembl Acc Id: ENSP00000261884   ⟸   ENST00000261884
Protein Domains
ASCH   TRIP4/RQT4 C2HC5-type zinc finger

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q15650-F1-model_v2 AlphaFold Q15650 1-581 view protein structure

Promoters
RGD ID:6792654
Promoter ID:HG_KWN:21645
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000256635
Position:
Human AssemblyChrPosition (strand)Source
Build 361562,466,759 - 62,467,259 (+)MPROMDB
RGD ID:7229787
Promoter ID:EPDNEW_H20639
Type:initiation region
Name:TRIP4_1
Description:thyroid hormone receptor interactor 4
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
GRCh381564,387,843 - 64,387,903EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:12310 AgrOrtholog
COSMIC TRIP4 COSMIC
Ensembl Genes ENSG00000103671 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000261884 ENTREZGENE
  ENST00000261884.8 UniProtKB/Swiss-Prot
  ENST00000558162.1 UniProtKB/TrEMBL
  ENST00000558820.5 UniProtKB/TrEMBL
  ENST00000560475.1 UniProtKB/TrEMBL
  ENST00000560567.5 UniProtKB/TrEMBL
  ENST00000560920.6 UniProtKB/TrEMBL
Gene3D-CATH Hypothetical protein UniProtKB/Swiss-Prot
GTEx ENSG00000103671 GTEx
HGNC ID HGNC:12310 ENTREZGENE
Human Proteome Map TRIP4 Human Proteome Map
InterPro ASCH_domain UniProtKB/Swiss-Prot
  PUA-like_sf UniProtKB/Swiss-Prot
  TRIP4-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Znf_C2HC5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9325 UniProtKB/Swiss-Prot
NCBI Gene 9325 ENTREZGENE
OMIM 604501 OMIM
PANTHER ACTIVATING SIGNAL COINTEGRATOR 1 UniProtKB/TrEMBL
  EXPRESSED PROTEIN UniProtKB/Swiss-Prot
  PTHR12963 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam ASCH UniProtKB/Swiss-Prot
  zf-C2HC5 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA36988 PharmGKB
SMART ASCH UniProtKB/Swiss-Prot
Superfamily-SCOP SSF88697 UniProtKB/Swiss-Prot
UniProt B2RAS0 ENTREZGENE
  H0YK63_HUMAN UniProtKB/TrEMBL
  H0YKD9_HUMAN UniProtKB/TrEMBL
  H0YL91_HUMAN UniProtKB/TrEMBL
  H0YLN7_HUMAN UniProtKB/TrEMBL
  H3BMU9_HUMAN UniProtKB/TrEMBL
  Q15650 ENTREZGENE
  Q96ED7 ENTREZGENE
  Q9UKH0 ENTREZGENE
  TRIP4_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B2RAS0 UniProtKB/Swiss-Prot
  Q96ED7 UniProtKB/Swiss-Prot
  Q9UKH0 UniProtKB/Swiss-Prot