FKBP14 (FKBP prolyl isomerase 14) - Rat Genome Database

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Gene: FKBP14 (FKBP prolyl isomerase 14) Homo sapiens
Analyze
Symbol: FKBP14
Name: FKBP prolyl isomerase 14
RGD ID: 1323300
HGNC Page HGNC:18625
Description: Predicted to enable RNA polymerase II CTD heptapeptide repeat P3 isomerase activity; RNA polymerase II CTD heptapeptide repeat P6 isomerase activity; and calcium ion binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in endoplasmic reticulum lumen. Implicated in Ehlers-Danlos syndrome kyphoscoliotic type 2.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 22 kDa FK506-binding protein; 22 kDa FKBP; EDSKMH; EDSKSCL2; FK506 binding protein 14; FK506 binding protein 14, 22 kDa; FK506-binding protein 14; FKBP-14; FKBP-22; FKBP22; FLJ20731; IPBP12; peptidyl-prolyl cis-trans isomerase FKBP14; PPIase FKBP14; rotamase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,005,923 - 30,026,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,010,587 - 30,026,702 (-)EnsemblGRCh38hg38GRCh38
GRCh37730,050,203 - 30,066,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,019,409 - 30,032,793 (-)NCBINCBI36Build 36hg18NCBI36
Build 34729,826,123 - 29,839,508NCBI
Celera730,042,275 - 30,055,659 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef729,932,008 - 29,948,256 (-)NCBIHuRef
CHM1_1730,050,309 - 30,066,527 (-)NCBICHM1_1
T2T-CHM13v2.0730,143,627 - 30,164,384 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2730,100,028 - 30,116,246 (-)NCBI
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
17beta-hydroxy-5alpha-androstan-3-one  (EXP)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2,6-dinitrotoluene  (ISO)
2-methylcholine  (EXP)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4-hydroxynon-2-enal  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acrylamide  (ISO)
all-trans-retinoic acid  (EXP)
aristolochic acid A  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
beta-lapachone  (EXP)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buta-1,3-diene  (ISO)
butan-1-ol  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
cobalt dichloride  (EXP)
crocidolite asbestos  (EXP)
cyclosporin A  (EXP,ISO)
deguelin  (EXP)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (ISO)
folic acid  (ISO)
furan  (ISO)
gentamycin  (ISO)
ivermectin  (EXP)
methyl methanesulfonate  (EXP)
methylmercury chloride  (EXP)
oxaliplatin  (ISO)
paracetamol  (ISO)
paraquat  (EXP)
perfluorooctanoic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
picoxystrobin  (EXP)
pregnenolone 16alpha-carbonitrile  (ISO)
resveratrol  (EXP)
rotenone  (EXP)
SB 431542  (EXP)
sunitinib  (EXP)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
valproic acid  (EXP,ISO)
vorinostat  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal eye morphology  (IAGP)
Aortic rupture  (IAGP)
Arterial rupture  (IAGP)
Atlantoaxial instability  (IAGP)
Atrophic scars  (IAGP)
Autosomal recessive inheritance  (IAGP)
Bladder diverticulum  (IAGP)
Blue sclerae  (IAGP)
Bruising susceptibility  (IAGP)
Cleft soft palate  (IAGP)
Conductive hearing impairment  (IAGP)
Cutis laxa  (IAGP)
Decreased fetal movement  (IAGP)
Delayed ability to walk  (IAGP)
Disproportionate tall stature  (IAGP)
Easy fatigability  (IAGP)
Elevated circulating creatine kinase concentration  (IAGP)
Epicanthus  (IAGP)
Feeding difficulties  (IAGP)
Fetal onset  (IAGP)
Follicular hyperkeratosis  (IAGP)
Hernia  (IAGP)
High-frequency sensorineural hearing impairment  (IAGP)
Hyperextensible skin  (IAGP)
Hypotelorism  (IAGP)
Hypotonia  (IAGP)
Inguinal hernia  (IAGP)
Joint hypermobility  (IAGP)
Kyphoscoliosis  (IAGP)
Large joint hypermobilty  (IAGP)
Microcornea  (IAGP)
Mitral regurgitation  (IAGP)
Mixed hearing impairment  (IAGP)
Motor delay  (IAGP)
Muscle weakness  (IAGP)
Muscular dystrophy  (IAGP)
Myopathy  (IAGP)
Myopia  (IAGP)
Neonatal hypotonia  (IAGP)
Osteopenia  (IAGP)
Patent ductus arteriosus  (IAGP)
Pes planus  (IAGP)
Pes valgus  (IAGP)
Pleomorphic xanthoastrocytoma  (IAGP)
Polyhydramnios  (IAGP)
Poor head control  (IAGP)
Redundant umbilical skin  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severe muscular hypotonia  (IAGP)
Skeletal muscle atrophy  (IAGP)
Sloping forehead  (IAGP)
Small joint hypermobilty  (IAGP)
Soft skin  (IAGP)
Talipes equinovarus  (IAGP)
Thoracolumbar scoliosis  (IAGP)
Tricuspid regurgitation  (IAGP)
Type 1 muscle fiber predominance  (IAGP)
Umbilical hernia  (IAGP)
Waddling gait  (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:12036304   PMID:12477932   PMID:12690205   PMID:12975309   PMID:14702039   PMID:15340161   PMID:15489334   PMID:16344560   PMID:18457437   PMID:19189656   PMID:19322201   PMID:19862764  
PMID:21900206   PMID:22265013   PMID:22675492   PMID:24272907   PMID:24773188   PMID:24821723   PMID:26186194   PMID:26344197   PMID:27131312   PMID:27149304   PMID:27223089   PMID:27905128  
PMID:28385890   PMID:28514442   PMID:28731139   PMID:30561154   PMID:31132235   PMID:31949249   PMID:32296183   PMID:33579342   PMID:33961781   PMID:34079125   PMID:34349018   PMID:34504686  
PMID:35696571   PMID:36054293   PMID:37894834  


Genomics

Comparative Map Data
FKBP14
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38730,005,923 - 30,026,702 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl730,010,587 - 30,026,702 (-)EnsemblGRCh38hg38GRCh38
GRCh37730,050,203 - 30,066,318 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36730,019,409 - 30,032,793 (-)NCBINCBI36Build 36hg18NCBI36
Build 34729,826,123 - 29,839,508NCBI
Celera730,042,275 - 30,055,659 (-)NCBICelera
Cytogenetic Map7p14.3NCBI
HuRef729,932,008 - 29,948,256 (-)NCBIHuRef
CHM1_1730,050,309 - 30,066,527 (-)NCBICHM1_1
T2T-CHM13v2.0730,143,627 - 30,164,384 (-)NCBIT2T-CHM13v2.0
CRA_TCAGchr7v2730,100,028 - 30,116,246 (-)NCBI
Fkbp14
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39654,554,590 - 54,574,329 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl654,554,589 - 54,574,293 (-)EnsemblGRCm39 Ensembl
GRCm38654,577,602 - 54,597,344 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl654,577,604 - 54,597,308 (-)EnsemblGRCm38mm10GRCm38
MGSCv37654,527,599 - 54,543,122 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36654,507,183 - 54,522,706 (-)NCBIMGSCv36mm8
Celera655,106,438 - 55,121,956 (-)NCBICelera
Cytogenetic Map6B3NCBI
cM Map627.01NCBI
Fkbp14
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8485,035,840 - 85,051,917 (-)NCBIGRCr8
mRatBN7.2483,705,531 - 83,721,515 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl483,705,652 - 83,721,528 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx488,922,395 - 88,935,651 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0484,697,822 - 84,711,077 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0483,116,557 - 83,131,174 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0484,753,628 - 84,768,314 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl484,753,633 - 84,768,249 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.04149,413,598 - 149,428,281 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4482,985,646 - 83,000,392 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1483,270,270 - 83,285,014 (-)NCBI
Celera478,576,056 - 78,590,677 (-)NCBICelera
Cytogenetic Map4q24NCBI
Fkbp14
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541031,309,525 - 31,325,544 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541031,313,637 - 31,325,544 (-)NCBIChiLan1.0ChiLan1.0
FKBP14
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2634,828,200 - 34,845,932 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1783,152,932 - 83,170,633 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0730,641,413 - 30,656,507 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1730,758,165 - 30,772,640 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl730,758,165 - 30,772,640 (-)Ensemblpanpan1.1panPan2
Fkbp14
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440511887,084,892 - 87,098,691 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364786,294,183 - 6,310,445 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364786,296,598 - 6,310,405 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FKBP14
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1842,903,100 - 42,913,609 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11842,903,100 - 42,913,609 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21847,295,898 - 47,305,208 (+)NCBISscrofa10.2Sscrofa10.2susScr3
FKBP14
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12128,352,196 - 28,367,910 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2128,352,402 - 28,367,147 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604276,325,433 - 76,339,220 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fkbp14
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_004624739770,808 - 781,949 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_004624739770,775 - 791,251 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FKBP14
195 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
GRCh37/hg19 7p14.3(chr7:28940557-31806164)x3 copy number gain not specified [RCV003986729] Chr7:28940557..31806164 [GRCh37]
Chr7:7p14.3
uncertain significance
FKBP14, 1-BP INS, 362C insertion Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV000024196]|Ehlers-danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV000024196] Chr7:7p14.3 pathogenic
NM_017946.4(FKBP14):c.42_60del (p.Val14_Thr15insTer) deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000024197] Chr7:30026449..30026467 [GRCh38]
Chr7:30066065..30066083 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.4(FKBP14):c.512A>C (p.His171Pro) single nucleotide variant Cardiovascular phenotype [RCV002341434]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000542233] Chr7:30014859 [GRCh38]
Chr7:30054475 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.1-14.3(chr7:17736012-30663423)x1 copy number loss not specified [RCV003986712] Chr7:17736012..30663423 [GRCh37]
Chr7:7p21.1-14.3
pathogenic
NM_017946.4(FKBP14):c.197+5_197+8del microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000148990] Chr7:30026304..30026307 [GRCh38]
Chr7:30065920..30065923 [GRCh37]
Chr7:7p14.3
pathogenic|likely pathogenic|not provided
GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3 copy number gain See cases [RCV000051159] Chr7:54185..41875885 [GRCh38]
Chr7:54185..41915483 [GRCh37]
Chr7:149268..41882008 [NCBI36]
Chr7:7p22.3-14.1
pathogenic
GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3 copy number gain See cases [RCV000053530] Chr7:54185..37089712 [GRCh38]
Chr7:54185..37129317 [GRCh37]
Chr7:149268..37095842 [NCBI36]
Chr7:7p22.3-14.2
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:53985-159282531)x1 copy number loss See cases [RCV000052250] Chr7:53985..159282531 [GRCh38]
Chr7:53985..159075220 [GRCh37]
Chr7:149068..158767981 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
GRCh38/hg38 7p15.2-14.3(chr7:25511691-30421133)x1 copy number loss See cases [RCV000052310] Chr7:25511691..30421133 [GRCh38]
Chr7:25551310..30460749 [GRCh37]
Chr7:25517835..30427274 [NCBI36]
Chr7:7p15.2-14.3
pathogenic
NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv inversion Childhood apraxia of speech [RCV000234948] Chr7:21001537..114528369 [GRCh37]
Chr7:7p15.3-q31.1
pathogenic
GRCh38/hg38 7p21.1-14.3(chr7:20561456-32005143)x1 copy number loss See cases [RCV000136775] Chr7:20561456..32005143 [GRCh38]
Chr7:20601079..32044755 [GRCh37]
Chr7:20567604..32011280 [NCBI36]
Chr7:7p21.1-14.3
pathogenic
GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1 copy number loss See cases [RCV000135401] Chr7:54185..159282390 [GRCh38]
Chr7:54185..159075079 [GRCh37]
Chr7:149268..158767840 [NCBI36]
Chr7:7p22.3-q36.3
pathogenic
NM_017946.4(FKBP14):c.41T>C (p.Val14Ala) single nucleotide variant not provided [RCV004762404]   uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:22935369-32621975)x1 copy number loss See cases [RCV000240125] Chr7:22935369..32621975 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) duplication Cardiovascular phenotype [RCV002460064]|Congenital muscular dystrophy [RCV000415176]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000533832]|FKBP14-related disorder [RCV004757185]|not provided [RCV000262568] Chr7:30019110..30019111 [GRCh38]
Chr7:30058726..30058727 [GRCh37]
Chr7:7p14.3
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001079159]|not provided [RCV000415956] Chr7:30026459..30026461 [GRCh38]
Chr7:30066075..30066077 [GRCh37]
Chr7:7p14.3
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) single nucleotide variant Cardiovascular phenotype [RCV002323646]|Ehlers-Danlos syndrome [RCV002279211]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650168]|not provided [RCV003437200]|not specified [RCV000424118] Chr7:30022684 [GRCh38]
Chr7:30062300 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) single nucleotide variant Cardiovascular phenotype [RCV002348242]|Ehlers-Danlos syndrome [RCV002279213]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000548744]|not provided [RCV001721425] Chr7:30019098 [GRCh38]
Chr7:30058714 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) single nucleotide variant Cardiovascular phenotype [RCV002402160]|Ehlers-Danlos syndrome [RCV002279183]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000535304]|not specified [RCV000438523] Chr7:30026344 [GRCh38]
Chr7:30065960 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p22.3-q36.3(chr7:43360-159119707)x1 copy number loss See cases [RCV000446044] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3 copy number gain See cases [RCV000446478] Chr7:11562624..36395416 [GRCh37]
Chr7:7p21.3-14.2
pathogenic
TMEM106B-BRAF fusion deletion Pleomorphic xanthoastrocytoma [RCV000454357] Chr7:12258147..140494267 [GRCh37]
Chr7:7p21.3-q34
pathogenic
NM_017946.4(FKBP14):c.*672C>T single nucleotide variant not specified [RCV000454861] Chr7:30014063 [GRCh38]
Chr7:30053679 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.275T>G (p.Leu92Trp) single nucleotide variant not provided [RCV000489381] Chr7:30022739 [GRCh38]
Chr7:30062355 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.357T>G (p.Ile119Met) single nucleotide variant Cardiovascular phenotype [RCV002455946]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000698654]|Hypotonia [RCV001270094]|not provided [RCV000490237] Chr7:30019116 [GRCh38]
Chr7:30058732 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) microsatellite Cardiovascular phenotype [RCV002341173]|Ehlers-Danlos syndrome [RCV002279278]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001081602]|FKBP14-related disorder [RCV003932798]|not provided [RCV000727030] Chr7:30014873..30014875 [GRCh38]
Chr7:30054489..30054491 [GRCh37]
Chr7:7p14.3
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_017946.4(FKBP14):c.568_570del (p.Lys190del) deletion Cardiovascular phenotype [RCV002350107]|Ehlers-Danlos syndrome [RCV002279276]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000552587]|not provided [RCV001722417] Chr7:30014801..30014803 [GRCh38]
Chr7:30054417..30054419 [GRCh37]
Chr7:7p14.3
likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707) copy number gain See cases [RCV000510686] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p14.3(chr7:29751912-30452918)x3 copy number gain See cases [RCV000511864] Chr7:29751912..30452918 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3 copy number gain See cases [RCV000512091] Chr7:11048840..52863626 [GRCh37]
Chr7:7p21.3-12.1
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3 copy number gain See cases [RCV000511549] Chr7:43361..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_017946.4(FKBP14):c.50T>C (p.Leu17Ser) single nucleotide variant Cardiovascular phenotype [RCV004024224]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000527938] Chr7:30026459 [GRCh38]
Chr7:30066075 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) single nucleotide variant Cardiovascular phenotype [RCV002456226]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000549637]|not provided [RCV001566106] Chr7:30026475 [GRCh38]
Chr7:30066091 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.410G>C (p.Gly137Ala) single nucleotide variant not provided [RCV000520972] Chr7:30019063 [GRCh38]
Chr7:30058679 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.119G>A (p.Arg40His) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000556850] Chr7:30026390 [GRCh38]
Chr7:30066006 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.350-8C>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000559890]|FKBP14-related disorder [RCV003900224]|not provided [RCV003437272]|not specified [RCV000609110] Chr7:30019131 [GRCh38]
Chr7:30058747 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.467_468del (p.Leu155_Ser156insTer) microsatellite Cardiovascular phenotype [RCV004025266]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650166]|not provided [RCV003480717] Chr7:30019005..30019006 [GRCh38]
Chr7:30058621..30058622 [GRCh37]
Chr7:7p14.3
likely pathogenic|uncertain significance
NM_017946.4(FKBP14):c.123G>A (p.Lys41=) single nucleotide variant Cardiovascular phenotype [RCV002377278]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000873758]|not provided [RCV000603030] Chr7:30026386 [GRCh38]
Chr7:30066002 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.-22C>T single nucleotide variant not specified [RCV000604816] Chr7:30026530 [GRCh38]
Chr7:30066146 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) single nucleotide variant Cardiovascular phenotype [RCV002350358]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000539149]|not provided [RCV004705665]|not specified [RCV000591650] Chr7:30014876 [GRCh38]
Chr7:30054492 [GRCh37]
Chr7:7p14.3
benign|likely benign|conflicting interpretations of pathogenicity
NM_017946.4(FKBP14):c.349+16T>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002064013]|not specified [RCV000614979] Chr7:30022649 [GRCh38]
Chr7:30062265 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.116A>G (p.His39Arg) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000650167] Chr7:30026393 [GRCh38]
Chr7:30066009 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.156T>A (p.Tyr52Ter) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000687575] Chr7:30026353 [GRCh38]
Chr7:30065969 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.4(FKBP14):c.580G>A (p.Asp194Asn) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000688619] Chr7:30014791 [GRCh38]
Chr7:30054407 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p14.3(chr7:30044128-30062424)x1 copy number loss not provided [RCV000746590] Chr7:30044128..30062424 [GRCh37]
Chr7:7p14.3
benign
GRCh37/hg19 7p14.3(chr7:30055807-30067626)x1 copy number loss not provided [RCV000746591] Chr7:30055807..30067626 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.570AGA[1] (p.Glu191del) microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000736019] Chr7:30014796..30014798 [GRCh38]
Chr7:30054412..30054414 [GRCh37]
Chr7:7p14.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:10704-159122532)x3 copy number gain not provided [RCV000746278] Chr7:10704..159122532 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
GRCh37/hg19 7p22.3-q36.3(chr7:44935-159126310)x3 copy number gain not provided [RCV000746280] Chr7:44935..159126310 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_017946.4(FKBP14):c.143T>A (p.Met48Lys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000790616] Chr7:30026366 [GRCh38]
Chr7:30065982 [GRCh37]
Chr7:7p14.3
pathogenic|not provided
NM_017946.4(FKBP14):c.208_209del (p.Asn70fs) deletion not provided [RCV000722564] Chr7:30022805..30022806 [GRCh38]
Chr7:30062421..30062422 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.23236782_30690453del7453672 deletion Silver Russell Syndrome-related disorder [RCV000785664] Chr7:23236782..30690453 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
NM_017946.4(FKBP14):c.198-250_198-249insTTAA insertion not provided [RCV000827666] Chr7:30023065..30023066 [GRCh38]
Chr7:30062681..30062682 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.595A>G (p.Ile199Val) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000799549] Chr7:30014776 [GRCh38]
Chr7:30054392 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.511C>T (p.His171Tyr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000812908] Chr7:30014860 [GRCh38]
Chr7:30054476 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.350-275A>G single nucleotide variant not provided [RCV000833366] Chr7:30019398 [GRCh38]
Chr7:30059014 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.3(FKBP14):c.-508T>C single nucleotide variant not provided [RCV000833390] Chr7:30027016 [GRCh38]
Chr7:30066632 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.34_35del (p.Leu12fs) microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000813591] Chr7:30026474..30026475 [GRCh38]
Chr7:30066090..30066091 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.3(FKBP14):c.-597A>G single nucleotide variant not provided [RCV000831065] Chr7:30027105 [GRCh38]
Chr7:30066721 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.233C>T (p.Thr78Ile) single nucleotide variant Cardiovascular phenotype [RCV002442683]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000804280] Chr7:30022781 [GRCh38]
Chr7:30062397 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3 copy number gain not provided [RCV000848126] Chr7:10365..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_017946.4(FKBP14):c.525G>T (p.Val175=) single nucleotide variant Cardiovascular phenotype [RCV002336743]|Ehlers-Danlos syndrome [RCV002279558]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001089319]|not provided [RCV000841688] Chr7:30014846 [GRCh38]
Chr7:30054462 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_017946.4(FKBP14):c.198-125T>C single nucleotide variant not provided [RCV000838101] Chr7:30022941 [GRCh38]
Chr7:30062557 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.182C>T (p.Ser61Phe) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000805068] Chr7:30026327 [GRCh38]
Chr7:30065943 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.174G>A (p.Lys58=) single nucleotide variant Cardiovascular phenotype [RCV002399960]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000875843] Chr7:30026335 [GRCh38]
Chr7:30065951 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.207_208del (p.His69fs) deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000984515] Chr7:30022806..30022807 [GRCh38]
Chr7:30062422..30062423 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) single nucleotide variant Cardiovascular phenotype [RCV002454170]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000945352] Chr7:30022768 [GRCh38]
Chr7:30062384 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.486A>T (p.Ala162=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001433612] Chr7:30014885 [GRCh38]
Chr7:30054501 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.139T>C (p.Leu47=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000983267] Chr7:30026370 [GRCh38]
Chr7:30065986 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.144G>A (p.Met48Ile) single nucleotide variant Cardiovascular phenotype [RCV002391066]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001317543]|not provided [RCV000998782] Chr7:30026365 [GRCh38]
Chr7:30065981 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.636G>C (p.Ter212Tyr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV000995548] Chr7:30014735 [GRCh38]
Chr7:30054351 [GRCh37]
Chr7:7p14.3
pathogenic
NC_000007.14:g.(?_30010573)_(30014903_?)del deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001031084] Chr7:30050189..30054519 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.386T>C (p.Ile129Thr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001058095] Chr7:30019087 [GRCh38]
Chr7:30058703 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.79G>C (p.Val27Leu) single nucleotide variant Cardiovascular phenotype [RCV004030971]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001036137] Chr7:30026430 [GRCh38]
Chr7:30066046 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.1-14.3(chr7:28487175-32037495)x3 copy number gain not provided [RCV001005926] Chr7:28487175..32037495 [GRCh37]
Chr7:7p15.1-14.3
likely pathogenic
NM_017946.4(FKBP14):c.557A>G (p.Asp186Gly) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001040612] Chr7:30014814 [GRCh38]
Chr7:30054430 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.250G>A (p.Ala84Thr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001065833] Chr7:30022764 [GRCh38]
Chr7:30062380 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.206A>G (p.His69Arg) single nucleotide variant Cardiovascular phenotype [RCV003307887]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001058209]|not provided [RCV004783893] Chr7:30022808 [GRCh38]
Chr7:30062424 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:23877135-33139446)x1 copy number loss not provided [RCV001005924] Chr7:23877135..33139446 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
GRCh37/hg19 7p14.3(chr7:29803827-30071557)x3 copy number gain not provided [RCV001005927] Chr7:29803827..30071557 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.92T>C (p.Val31Ala) single nucleotide variant Cardiovascular phenotype [RCV002372758]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001038176] Chr7:30026417 [GRCh38]
Chr7:30066033 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.164A>G (p.Tyr55Cys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001211753] Chr7:30026345 [GRCh38]
Chr7:30065961 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.197+1G>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001215138] Chr7:30026311 [GRCh38]
Chr7:30065927 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_017946.4(FKBP14):c.568A>C (p.Lys190Gln) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001204376] Chr7:30014803 [GRCh38]
Chr7:30054419 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.147G>C (p.Leu49Phe) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001220099] Chr7:30026362 [GRCh38]
Chr7:30065978 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.582C>G (p.Asp194Glu) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001216205] Chr7:30014789 [GRCh38]
Chr7:30054405 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.619A>C (p.Lys207Gln) single nucleotide variant Cardiovascular phenotype [RCV003163683]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001219079] Chr7:30014752 [GRCh38]
Chr7:30054368 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.477+1G>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001241627]|not provided [RCV004719111] Chr7:30018995 [GRCh38]
Chr7:30058611 [GRCh37]
Chr7:7p14.3
likely pathogenic|uncertain significance
GRCh37/hg19 7p14.3(chr7:29758030-31318843)x3 copy number gain not provided [RCV001258937] Chr7:29758030..31318843 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_017946.4(FKBP14):c.247G>A (p.Glu83Lys) single nucleotide variant Cardiovascular phenotype [RCV004036310]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001304410]|not provided [RCV003227024] Chr7:30022767 [GRCh38]
Chr7:30062383 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.340G>A (p.Glu114Lys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001332214] Chr7:30022674 [GRCh38]
Chr7:30062290 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.30G>C (p.Leu10Phe) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001324981] Chr7:30026479 [GRCh38]
Chr7:30066095 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30049199)_(30067417_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001352279] Chr7:30049199..30067417 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.518C>T (p.Ala173Val) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001339103]|not provided [RCV001815541] Chr7:30014853 [GRCh38]
Chr7:30054469 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.25G>A (p.Val9Ile) single nucleotide variant Cardiovascular phenotype [RCV002430094]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001298711] Chr7:30026484 [GRCh38]
Chr7:30066100 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.499G>A (p.Glu167Lys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001341112] Chr7:30014872 [GRCh38]
Chr7:30054488 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.179G>A (p.Gly60Asp) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001337981] Chr7:30026330 [GRCh38]
Chr7:30065946 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.257A>G (p.Lys86Arg) single nucleotide variant Cardiovascular phenotype [RCV003375235]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001338982] Chr7:30022757 [GRCh38]
Chr7:30062373 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.137A>G (p.Asp46Gly) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001340559] Chr7:30026372 [GRCh38]
Chr7:30065988 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.349+6A>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001320630] Chr7:30022659 [GRCh38]
Chr7:30062275 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.560T>G (p.Ile187Ser) single nucleotide variant Cardiovascular phenotype [RCV002350697]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001367451] Chr7:30014811 [GRCh38]
Chr7:30054427 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.467C>A (p.Ser156Tyr) single nucleotide variant Cardiovascular phenotype [RCV002341800]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001370291] Chr7:30019006 [GRCh38]
Chr7:30058622 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.445C>G (p.Leu149Val) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001373526] Chr7:30019028 [GRCh38]
Chr7:30058644 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30050189)_(30054519_?)del deletion Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss [RCV001323796] Chr7:30050189..30054519 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.95_96del (p.Leu32fs) microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001380251] Chr7:30026413..30026414 [GRCh38]
Chr7:30066029..30066030 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.4(FKBP14):c.39C>T (p.Phe13=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001441293] Chr7:30026470 [GRCh38]
Chr7:30066086 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.350-5G>A single nucleotide variant Cardiovascular phenotype [RCV002342086]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001481821]|FKBP14-related disorder [RCV004731156]|not provided [RCV001786488] Chr7:30019128 [GRCh38]
Chr7:30058744 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_017946.4(FKBP14):c.66C>A (p.Ile22=) single nucleotide variant Cardiovascular phenotype [RCV002368401]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001457801] Chr7:30026443 [GRCh38]
Chr7:30066059 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.222C>T (p.Pro74=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001453660] Chr7:30022792 [GRCh38]
Chr7:30062408 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.349+10T>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001473606] Chr7:30022655 [GRCh38]
Chr7:30062271 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-34A>G single nucleotide variant not provided [RCV001547707] Chr7:30014927 [GRCh38]
Chr7:30054543 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.350-6C>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001506715] Chr7:30019129 [GRCh38]
Chr7:30058745 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.349+15G>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002072190]|not provided [RCV001568929] Chr7:30022650 [GRCh38]
Chr7:30062266 [GRCh37]
Chr7:7p14.3
benign|likely benign
NM_017946.4(FKBP14):c.198-324T>C single nucleotide variant not provided [RCV001575377] Chr7:30023140 [GRCh38]
Chr7:30062756 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-115G>T single nucleotide variant not provided [RCV001666945] Chr7:30015008 [GRCh38]
Chr7:30054624 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.478-290C>T single nucleotide variant not provided [RCV001581204] Chr7:30015183 [GRCh38]
Chr7:30054799 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.*2G>C single nucleotide variant not provided [RCV001581295] Chr7:30014733 [GRCh38]
Chr7:30054349 [GRCh37]
Chr7:7p14.3
likely benign
NC_000007.14:g.30026971TG[1] microsatellite not provided [RCV001655142] Chr7:30026971..30026972 [GRCh38]
Chr7:30066587..30066588 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.197+23T>C single nucleotide variant not provided [RCV001648261] Chr7:30026289 [GRCh38]
Chr7:30065905 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.349+79T>C single nucleotide variant not provided [RCV001652724] Chr7:30022586 [GRCh38]
Chr7:30062202 [GRCh37]
Chr7:7p14.3
benign
NM_017946.4(FKBP14):c.568A>T (p.Lys190Ter) single nucleotide variant not provided [RCV001762888] Chr7:30014803 [GRCh38]
Chr7:30054419 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.109A>C (p.Ile37Leu) single nucleotide variant not provided [RCV001765972] Chr7:30026400 [GRCh38]
Chr7:30066016 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.314T>C (p.Ile105Thr) single nucleotide variant Cardiovascular phenotype [RCV003299020]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003772275]|not provided [RCV001816456] Chr7:30022700 [GRCh38]
Chr7:30062316 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.350-8C>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001889339] Chr7:30019131 [GRCh38]
Chr7:30058747 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.18G>C (p.Trp6Cys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002024068] Chr7:30026491 [GRCh38]
Chr7:30066107 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.467_469del (p.Ser156_Lys157delinsTer) deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001871136] Chr7:30019004..30019006 [GRCh38]
Chr7:30058620..30058622 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167) copy number gain not specified [RCV002053668] Chr7:10745750..35305167 [GRCh37]
Chr7:7p21.3-14.2
likely pathogenic
GRCh37/hg19 7p15.2-14.1(chr7:27507832-39072473) copy number gain not specified [RCV002053677] Chr7:27507832..39072473 [GRCh37]
Chr7:7p15.2-14.1
likely pathogenic
NM_017946.4(FKBP14):c.556G>T (p.Asp186Tyr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001984024] Chr7:30014815 [GRCh38]
Chr7:30054431 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.305A>G (p.Lys102Arg) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002003005] Chr7:30022709 [GRCh38]
Chr7:30062325 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.404G>A (p.Arg135Gln) single nucleotide variant Cardiovascular phenotype [RCV003382701]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001896667] Chr7:30019069 [GRCh38]
Chr7:30058685 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.478G>A (p.Val160Ile) single nucleotide variant Cardiovascular phenotype [RCV004043037]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001965213]|not provided [RCV003438903] Chr7:30014893 [GRCh38]
Chr7:30054509 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.527A>G (p.Asn176Ser) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001983507] Chr7:30014844 [GRCh38]
Chr7:30054460 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30054351)_(31018859_?)dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001911803] Chr7:30054351..31018859 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.385A>G (p.Ile129Val) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001964974] Chr7:30019088 [GRCh38]
Chr7:30058704 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.198-3T>C single nucleotide variant Cardiovascular phenotype [RCV004041834]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001964776] Chr7:30022819 [GRCh38]
Chr7:30062435 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.218A>T (p.Gln73Leu) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001902890] Chr7:30022796 [GRCh38]
Chr7:30062412 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.573A>T (p.Glu191Asp) single nucleotide variant Cardiovascular phenotype [RCV004044159]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001919608] Chr7:30014798 [GRCh38]
Chr7:30054414 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.32C>T (p.Thr11Ile) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001954901] Chr7:30026477 [GRCh38]
Chr7:30066093 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.543T>A (p.Asp181Glu) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001954938] Chr7:30014828 [GRCh38]
Chr7:30054444 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.6G>T (p.Arg2Ser) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002048772] Chr7:30026503 [GRCh38]
Chr7:30066119 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.478-1G>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002028454] Chr7:30014894 [GRCh38]
Chr7:30054510 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.136G>T (p.Asp46Tyr) single nucleotide variant Cardiovascular phenotype [RCV002386912]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002026482] Chr7:30026373 [GRCh38]
Chr7:30065989 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.16T>G (p.Trp6Gly) single nucleotide variant Cardiovascular phenotype [RCV003375453]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001921296] Chr7:30026493 [GRCh38]
Chr7:30066109 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.103C>A (p.Pro35Thr) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001866852] Chr7:30026406 [GRCh38]
Chr7:30066022 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.206dup (p.His69fs) duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001960107] Chr7:30022807..30022808 [GRCh38]
Chr7:30062423..30062424 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.4(FKBP14):c.74C>G (p.Pro25Arg) single nucleotide variant Cardiovascular phenotype [RCV004616958]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002038274] Chr7:30026435 [GRCh38]
Chr7:30066051 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.173A>C (p.Lys58Thr) single nucleotide variant Cardiovascular phenotype [RCV002397889]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001907095]|not provided [RCV002074435] Chr7:30026336 [GRCh38]
Chr7:30065952 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.471A>C (p.Lys157Asn) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001940534] Chr7:30019002 [GRCh38]
Chr7:30058618 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.57G>A (p.Gly19=) single nucleotide variant Cardiovascular phenotype [RCV002352945]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002186549] Chr7:30026452 [GRCh38]
Chr7:30066068 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-19G>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV001995485] Chr7:30014912 [GRCh38]
Chr7:30054528 [GRCh37]
Chr7:7p14.3
likely benign|uncertain significance
NM_017946.4(FKBP14):c.561T>A (p.Ile187=) single nucleotide variant Cardiovascular phenotype [RCV002346405]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002075241] Chr7:30014810 [GRCh38]
Chr7:30054426 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.325C>T (p.Leu109=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002210328] Chr7:30022689 [GRCh38]
Chr7:30062305 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-14C>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002168578] Chr7:30014907 [GRCh38]
Chr7:30054523 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.198-16T>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002193310] Chr7:30022832 [GRCh38]
Chr7:30062448 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.198-19T>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002146876] Chr7:30022835 [GRCh38]
Chr7:30062451 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.105A>G (p.Pro35=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002115511] Chr7:30026404 [GRCh38]
Chr7:30066020 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.198-4A>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002167734] Chr7:30022820 [GRCh38]
Chr7:30062436 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.477+15_477+17del microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002094573] Chr7:30018979..30018981 [GRCh38]
Chr7:30058595..30058597 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.197+16C>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002114958] Chr7:30026296 [GRCh38]
Chr7:30065912 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.468T>C (p.Ser156=) single nucleotide variant Cardiovascular phenotype [RCV002331772]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002079275] Chr7:30019005 [GRCh38]
Chr7:30058621 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.477+7T>A single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002140971] Chr7:30018989 [GRCh38]
Chr7:30058605 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.624C>T (p.His208=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002181775] Chr7:30014747 [GRCh38]
Chr7:30054363 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.558T>C (p.Asp186=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002160631] Chr7:30014813 [GRCh38]
Chr7:30054429 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.486A>C (p.Ala162=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002156121] Chr7:30014885 [GRCh38]
Chr7:30054501 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.333T>C (p.Tyr111=) single nucleotide variant Cardiovascular phenotype [RCV003161600]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002118961] Chr7:30022681 [GRCh38]
Chr7:30062297 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.349+10T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002121327] Chr7:30022655 [GRCh38]
Chr7:30062271 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.376A>G (p.Ile126Val) single nucleotide variant not provided [RCV002261818] Chr7:30019097 [GRCh38]
Chr7:30058713 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p15.3-14.3(chr7:25451740-33864069) copy number loss Cyclical vomiting syndrome [RCV002280775] Chr7:25451740..33864069 [GRCh37]
Chr7:7p15.3-14.3
pathogenic
Single allele complex Ring chromosome 7 [RCV002280646] Chr7:43360..159119707 [GRCh37]
Chr7:7p22.3-q36.3
pathogenic
NM_017946.4(FKBP14):c.349G>A (p.Gly117Ser) single nucleotide variant Ehlers-Danlos syndrome [RCV002278045] Chr7:30022665 [GRCh38]
Chr7:30062281 [GRCh37]
Chr7:7p14.3
uncertain significance
GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1 copy number loss See cases [RCV002287832] Chr7:56604613..96692931 [GRCh37]
Chr7:7p22.3-q36.3
uncertain significance
NM_017946.4(FKBP14):c.365A>G (p.Glu122Gly) single nucleotide variant Cardiovascular phenotype [RCV002452527] Chr7:30019108 [GRCh38]
Chr7:30058724 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.375G>A (p.Leu125=) single nucleotide variant Cardiovascular phenotype [RCV002349357] Chr7:30019098 [GRCh38]
Chr7:30058714 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.329G>T (p.Gly110Val) single nucleotide variant Cardiovascular phenotype [RCV002326204] Chr7:30022685 [GRCh38]
Chr7:30062301 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.424G>C (p.Glu142Gln) single nucleotide variant Cardiovascular phenotype [RCV002329850] Chr7:30019049 [GRCh38]
Chr7:30058665 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.426A>G (p.Glu142=) single nucleotide variant Cardiovascular phenotype [RCV002330002]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645272] Chr7:30019047 [GRCh38]
Chr7:30058663 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.134G>A (p.Gly45Glu) single nucleotide variant Cardiovascular phenotype [RCV002387918] Chr7:30026375 [GRCh38]
Chr7:30065991 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.445C>T (p.Leu149Phe) single nucleotide variant Cardiovascular phenotype [RCV002328411] Chr7:30019028 [GRCh38]
Chr7:30058644 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.519G>A (p.Ala173=) single nucleotide variant Cardiovascular phenotype [RCV002338573]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645285] Chr7:30014852 [GRCh38]
Chr7:30054468 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.297G>A (p.Glu99=) single nucleotide variant Cardiovascular phenotype [RCV002442197] Chr7:30022717 [GRCh38]
Chr7:30062333 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.556G>A (p.Asp186Asn) single nucleotide variant Cardiovascular phenotype [RCV002352048] Chr7:30014815 [GRCh38]
Chr7:30054431 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.512A>G (p.His171Arg) single nucleotide variant Cardiovascular phenotype [RCV002338160] Chr7:30014859 [GRCh38]
Chr7:30054475 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.267C>T (p.Asp89=) single nucleotide variant Cardiovascular phenotype [RCV002428884] Chr7:30022747 [GRCh38]
Chr7:30062363 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.408T>C (p.Asn136=) single nucleotide variant Cardiovascular phenotype [RCV002323224] Chr7:30019065 [GRCh38]
Chr7:30058681 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.265G>A (p.Asp89Asn) single nucleotide variant Cardiovascular phenotype [RCV002428733] Chr7:30022749 [GRCh38]
Chr7:30062365 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.34dup (p.Leu12fs) duplication not provided [RCV002461704] Chr7:30026474..30026475 [GRCh38]
Chr7:30066090..30066091 [GRCh37]
Chr7:7p14.3
likely pathogenic
GRCh37/hg19 7p15.2-14.3(chr7:27133786-34466477)x1 copy number loss not provided [RCV002475752] Chr7:27133786..34466477 [GRCh37]
Chr7:7p15.2-14.3
pathogenic
NM_017946.4(FKBP14):c.197+6dup duplication Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002903182] Chr7:30026305..30026306 [GRCh38]
Chr7:30065921..30065922 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.215G>A (p.Gly72Asp) single nucleotide variant Cardiovascular phenotype [RCV002417888]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003101097] Chr7:30022799 [GRCh38]
Chr7:30062415 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.114C>T (p.Cys38=) single nucleotide variant Cardiovascular phenotype [RCV002346637]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003094277] Chr7:30026395 [GRCh38]
Chr7:30066011 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.52A>T (p.Ile18Phe) single nucleotide variant Cardiovascular phenotype [RCV002344577] Chr7:30026457 [GRCh38]
Chr7:30066073 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.537T>A (p.His179Gln) single nucleotide variant Cardiovascular phenotype [RCV002347129]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003096714] Chr7:30014834 [GRCh38]
Chr7:30054450 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.16T>C (p.Trp6Arg) single nucleotide variant Cardiovascular phenotype [RCV002414692] Chr7:30026493 [GRCh38]
Chr7:30066109 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.186A>G (p.Leu62=) single nucleotide variant Cardiovascular phenotype [RCV002415053]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003774532]|not provided [RCV003439017] Chr7:30026323 [GRCh38]
Chr7:30065939 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.477+20A>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002819189] Chr7:30018976 [GRCh38]
Chr7:30058592 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.350-18C>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003033599] Chr7:30019141 [GRCh38]
Chr7:30058757 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.54T>C (p.Ile18=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002886173] Chr7:30026455 [GRCh38]
Chr7:30066071 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.555G>A (p.Glu185=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002867727] Chr7:30014816 [GRCh38]
Chr7:30054432 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.589G>A (p.Gly197Arg) single nucleotide variant Cardiovascular phenotype [RCV003170709]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002949042] Chr7:30014782 [GRCh38]
Chr7:30054398 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.351T>C (p.Gly117=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002735640] Chr7:30019122 [GRCh38]
Chr7:30058738 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.295G>C (p.Glu99Gln) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003078464] Chr7:30022719 [GRCh38]
Chr7:30062335 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.591G>T (p.Gly197=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003039909] Chr7:30014780 [GRCh38]
Chr7:30054396 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.36G>C (p.Leu12=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002953100] Chr7:30026473 [GRCh38]
Chr7:30066089 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-18G>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003056104] Chr7:30014911 [GRCh38]
Chr7:30054527 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.478-20T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574490] Chr7:30014913 [GRCh38]
Chr7:30054529 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.632T>C (p.Leu211Ser) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574291] Chr7:30014739 [GRCh38]
Chr7:30054355 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.428C>G (p.Ser143Ter) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002574060] Chr7:30019045 [GRCh38]
Chr7:30058661 [GRCh37]
Chr7:7p14.3
pathogenic|likely pathogenic
NM_017946.4(FKBP14):c.350-7A>G single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002791112] Chr7:30019130 [GRCh38]
Chr7:30058746 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.52A>G (p.Ile18Val) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002932286] Chr7:30026457 [GRCh38]
Chr7:30066073 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.53T>C (p.Ile18Thr) single nucleotide variant Cardiovascular phenotype [RCV004617167]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003058645] Chr7:30026456 [GRCh38]
Chr7:30066072 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.99G>A (p.Gln33=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002575384] Chr7:30026410 [GRCh38]
Chr7:30066026 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.194C>T (p.Ser65Phe) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002811088] Chr7:30026315 [GRCh38]
Chr7:30065931 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.24G>T (p.Ala8=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003072343] Chr7:30026485 [GRCh38]
Chr7:30066101 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.535CAT[1] (p.His180del) microsatellite Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003092419] Chr7:30014831..30014833 [GRCh38]
Chr7:30054447..30054449 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.203A>G (p.Lys68Arg) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV002631993] Chr7:30022811 [GRCh38]
Chr7:30062427 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.393C>A (p.Leu131=) single nucleotide variant Cardiovascular phenotype [RCV003384317]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003068943] Chr7:30019080 [GRCh38]
Chr7:30058696 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.349+18T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003065511] Chr7:30022647 [GRCh38]
Chr7:30062263 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.350-13T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003069677] Chr7:30019136 [GRCh38]
Chr7:30058752 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.307C>T (p.Leu103Phe) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003068080] Chr7:30022707 [GRCh38]
Chr7:30062323 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.615A>G (p.Thr205=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003117001] Chr7:30014756 [GRCh38]
Chr7:30054372 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.40G>C (p.Val14Leu) single nucleotide variant Cardiovascular phenotype [RCV004245904]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003121928] Chr7:30026469 [GRCh38]
Chr7:30066085 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.21C>A (p.Asn7Lys) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003104324] Chr7:30026488 [GRCh38]
Chr7:30066104 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs) deletion Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003226828] Chr7:30026454..30026457 [GRCh38]
Chr7:30066070..30066073 [GRCh37]
Chr7:7p14.3
likely pathogenic
NM_017946.4(FKBP14):c.554A>G (p.Glu185Gly) single nucleotide variant Cardiovascular phenotype [RCV004305912] Chr7:30014817 [GRCh38]
Chr7:30054433 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.223A>G (p.Ile75Val) single nucleotide variant Cardiovascular phenotype [RCV003387240] Chr7:30022791 [GRCh38]
Chr7:30062407 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.133G>T (p.Gly45Trp) single nucleotide variant Cardiovascular phenotype [RCV003387241] Chr7:30026376 [GRCh38]
Chr7:30065992 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.224T>G (p.Ile75Ser) single nucleotide variant Cardiovascular phenotype [RCV004364840]|not provided [RCV003481834] Chr7:30022790 [GRCh38]
Chr7:30062406 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.576T>C (p.Asp192=) single nucleotide variant Cardiovascular phenotype [RCV004621861]|Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644763] Chr7:30014795 [GRCh38]
Chr7:30054411 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.93T>G (p.Val31=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644797] Chr7:30026416 [GRCh38]
Chr7:30066032 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.306G>A (p.Lys102=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644801] Chr7:30022708 [GRCh38]
Chr7:30062324 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.87T>G (p.Ile29Met) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644590] Chr7:30026422 [GRCh38]
Chr7:30066038 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.429A>G (p.Ser143=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644844] Chr7:30019044 [GRCh38]
Chr7:30058660 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.477+20A>T single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645639] Chr7:30018976 [GRCh38]
Chr7:30058592 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.75A>G (p.Pro25=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003644600] Chr7:30026434 [GRCh38]
Chr7:30066050 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.99G>T (p.Gln33His) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003645435] Chr7:30026410 [GRCh38]
Chr7:30066026 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.204A>G (p.Lys68=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003529813] Chr7:30022810 [GRCh38]
Chr7:30062426 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.198-8T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003531385] Chr7:30022824 [GRCh38]
Chr7:30062440 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.350-17T>C single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003530767] Chr7:30019140 [GRCh38]
Chr7:30058756 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.264G>A (p.Trp88Ter) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003531012] Chr7:30022750 [GRCh38]
Chr7:30062366 [GRCh37]
Chr7:7p14.3
pathogenic
NM_017946.4(FKBP14):c.432C>T (p.Phe144=) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV003820227] Chr7:30019041 [GRCh38]
Chr7:30058657 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.447T>C (p.Leu149=) single nucleotide variant Cardiovascular phenotype [RCV004524227] Chr7:30019026 [GRCh38]
Chr7:30058642 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.524T>A (p.Val175Glu) single nucleotide variant Cardiovascular phenotype [RCV004524228] Chr7:30014847 [GRCh38]
Chr7:30054463 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.533G>C (p.Ser178Thr) single nucleotide variant Cardiovascular phenotype [RCV004524229] Chr7:30014838 [GRCh38]
Chr7:30054454 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.570A>G (p.Lys190=) single nucleotide variant Cardiovascular phenotype [RCV004524231] Chr7:30014801 [GRCh38]
Chr7:30054417 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.582C>T (p.Asp194=) single nucleotide variant Cardiovascular phenotype [RCV004524232] Chr7:30014789 [GRCh38]
Chr7:30054405 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.155A>G (p.Tyr52Cys) single nucleotide variant Cardiovascular phenotype [RCV004524225] Chr7:30026354 [GRCh38]
Chr7:30065970 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.53T>A (p.Ile18Asn) single nucleotide variant Cardiovascular phenotype [RCV004524230] Chr7:30026456 [GRCh38]
Chr7:30066072 [GRCh37]
Chr7:7p14.3
uncertain significance
NC_000007.13:g.(?_30054351)_(30963244_?)del deletion Charcot-Marie-Tooth disease type 2 [RCV004583590] Chr7:30054351..30963244 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.448A>G (p.Asn150Asp) single nucleotide variant Cardiovascular phenotype [RCV004623567] Chr7:30019025 [GRCh38]
Chr7:30058641 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.514G>A (p.Gly172Ser) single nucleotide variant Cardiovascular phenotype [RCV004623569] Chr7:30014857 [GRCh38]
Chr7:30054473 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.559A>G (p.Ile187Val) single nucleotide variant Cardiovascular phenotype [RCV004623572] Chr7:30014812 [GRCh38]
Chr7:30054428 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.454G>A (p.Asp152Asn) single nucleotide variant Cardiovascular phenotype [RCV004623571] Chr7:30019019 [GRCh38]
Chr7:30058635 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.595A>T (p.Ile199Leu) single nucleotide variant Cardiovascular phenotype [RCV004623570] Chr7:30014776 [GRCh38]
Chr7:30054392 [GRCh37]
Chr7:7p14.3
uncertain significance
NM_017946.4(FKBP14):c.270G>A (p.Gln90=) single nucleotide variant Cardiovascular phenotype [RCV004623573] Chr7:30022744 [GRCh38]
Chr7:30062360 [GRCh37]
Chr7:7p14.3
likely benign
NM_017946.4(FKBP14):c.626A>G (p.Asp209Gly) single nucleotide variant Ehlers-Danlos syndrome, kyphoscoliotic type, 2 [RCV004796982] Chr7:30014745 [GRCh38]
Chr7:30054361 [GRCh37]
uncertain significance
NM_017946.4(FKBP14):c.161G>C (p.Gly54Ala) single nucleotide variant not provided [RCV004793046] Chr7:30026348 [GRCh38]
Chr7:30065964 [GRCh37]
Chr7:7p14.3
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2100
Count of miRNA genes:890
Interacting mature miRNAs:1053
Transcripts:ENST00000222803, ENST00000412494, ENST00000419018, ENST00000479939
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
407290813GWAS939789_Hbody height QTL GWAS939789 (human)3e-44body height (VT:0001253)body height (CMO:0000106)73002258630022587Human
2289453BW297_HBody weight QTL 297 (human)3.83Body weightbody mass index72334946449349464Human

Markers in Region
RH65031  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,052,313 - 30,052,428UniSTSGRCh37
Build 36730,018,838 - 30,018,953RGDNCBI36
Celera730,041,704 - 30,041,819RGD
Cytogenetic Map7p14.3UniSTS
HuRef729,934,121 - 29,934,236UniSTS
CRA_TCAGchr7v2730,102,142 - 30,102,257UniSTS
GeneMap99-GB4 RH Map7151.92UniSTS
NCBI RH Map7498.0UniSTS
RH71181  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,053,426 - 30,053,608UniSTSGRCh37
Build 36730,019,951 - 30,020,133RGDNCBI36
Celera730,042,817 - 30,042,999RGD
Cytogenetic Map7p14.3UniSTS
HuRef729,935,234 - 29,935,416UniSTS
CRA_TCAGchr7v2730,103,255 - 30,103,437UniSTS
GeneMap99-GB4 RH Map7132.97UniSTS
GDB:3754616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37730,052,472 - 30,052,600UniSTSGRCh37
Build 36730,018,997 - 30,019,125RGDNCBI36
Celera730,041,863 - 30,041,991RGD
Cytogenetic Map7p14.3UniSTS
HuRef729,934,280 - 29,934,408UniSTS
CRA_TCAGchr7v2730,102,301 - 30,102,429UniSTS
D17S610  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map10q21.1UniSTS
L17705  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21.3UniSTS
STS-T76997  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1p35-p36.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1q21UniSTS
GeneMap99-GB4 RH Map1246.39UniSTS
L17971  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map4q21.23UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map3p25UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic MapXq22UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map18q21.31UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map20p11.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map9q34.13UniSTS
G35510  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1q21UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1q42UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map10p12UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2p25-p24UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6pter-q22.33UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map11q14.2-q21UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map9p21.3UniSTS
Cytogenetic Map7p15.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31-q32UniSTS
Cytogenetic Map18p11.2UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map12p13.33UniSTS
Cytogenetic Map18p11.22-p11.21UniSTS
Cytogenetic Map5q34-q35UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic MapXp22.32UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map20q13.33UniSTS
D1S1423  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map6p22.3-p21.32UniSTS
Cytogenetic Map6q22.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map9q12UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map18q22.1UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map10p14-p13UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map11q23-q24UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map22cen-q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map3q25UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map4q28UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map1q41-q42UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map12p13.1-p12.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map7q33UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map11q24.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3q13UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map7p14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map12q24.2UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map1p12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map10p12.33UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map9p21.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map3q26.31UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq27.2UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q24.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map2p13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map20q11.21-q11.23UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map14q32.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2p22.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map9p12UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map15q22-q24UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map4p15.31UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map15q22.1-q22.31UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map4q24UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map3p21.1-p14.2UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map6q24.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map10pter-q25.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map1q32.2-q41UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map15q26UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p15.1-p14UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q33.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map7q32.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map15q25.1UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map2p24.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map6p24-p22.3UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q21-q24UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map4q34.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map13q13.3UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map1q31UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map8q24.12UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map6q25.2UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map20pter-p12UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map14q22.2UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map6p22-p21UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q22.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map10q22.3-q23.2UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map4q21.3UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map3q12.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map3p12.3UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map3q11.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map6p24.2UniSTS
Cytogenetic Map20q13.33UniSTS
D5S1597E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map18q12.2UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map13q33.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map2p12-p11.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map6q16.2UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS


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 174 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_017946 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046478 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_046479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047420550 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054358538 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AACC02000087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC007285 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY358643 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC005206 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471073 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068271 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR748502 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA166879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB498479 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JQ797475 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000222803   ⟹   ENSP00000222803
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,010,587 - 30,026,702 (-)Ensembl
Ensembl Acc Id: ENST00000412494   ⟹   ENSP00000403279
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,014,671 - 30,026,419 (-)Ensembl
Ensembl Acc Id: ENST00000419018   ⟹   ENSP00000406270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,014,288 - 30,026,662 (-)Ensembl
Ensembl Acc Id: ENST00000479939
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl730,022,391 - 30,026,636 (-)Ensembl
RefSeq Acc Id: NM_017946   ⟹   NP_060416
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,010,587 - 30,026,702 (-)NCBI
GRCh37730,050,199 - 30,066,417 (-)NCBI
Build 36730,019,409 - 30,032,793 (-)NCBI Archive
Celera730,042,275 - 30,055,659 (-)RGD
HuRef729,932,008 - 29,948,256 (-)NCBI
CHM1_1730,050,309 - 30,066,527 (-)NCBI
T2T-CHM13v2.0730,148,289 - 30,164,384 (-)NCBI
CRA_TCAGchr7v2730,100,028 - 30,116,246 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046478
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,010,587 - 30,026,702 (-)NCBI
GRCh37730,050,199 - 30,066,417 (-)NCBI
HuRef729,932,008 - 29,948,256 (-)NCBI
CHM1_1730,050,309 - 30,066,527 (-)NCBI
T2T-CHM13v2.0730,148,289 - 30,164,384 (-)NCBI
CRA_TCAGchr7v2730,100,028 - 30,116,246 (-)NCBI
Sequence:
RefSeq Acc Id: NR_046479
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,010,587 - 30,026,702 (-)NCBI
GRCh37730,050,199 - 30,066,417 (-)NCBI
HuRef729,932,008 - 29,948,256 (-)NCBI
CHM1_1730,050,309 - 30,066,527 (-)NCBI
T2T-CHM13v2.0730,148,289 - 30,164,384 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047420550   ⟹   XP_047276506
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38730,005,923 - 30,026,702 (-)NCBI
RefSeq Acc Id: XM_054358538   ⟹   XP_054214513
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0730,143,627 - 30,164,384 (-)NCBI
RefSeq Acc Id: NP_060416   ⟸   NM_017946
- Peptide Label: precursor
- UniProtKB: Q9NWM8 (UniProtKB/Swiss-Prot),   A0A090N7V8 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000403279   ⟸   ENST00000412494
Ensembl Acc Id: ENSP00000406270   ⟸   ENST00000419018
Ensembl Acc Id: ENSP00000222803   ⟸   ENST00000222803
RefSeq Acc Id: XP_047276506   ⟸   XM_047420550
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054214513   ⟸   XM_054358538
- Peptide Label: isoform X1
Protein Domains
EF-hand   PPIase FKBP-type

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9NWM8-F1-model_v2 AlphaFold Q9NWM8 1-211 view protein structure

Promoters
RGD ID:7210263
Promoter ID:EPDNEW_H10877
Type:initiation region
Name:FKBP14_1
Description:FK506 binding protein 14
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
GRCh38730,026,698 - 30,026,758EPDNEW
RGD ID:6805672
Promoter ID:HG_KWN:56793
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:OTTHUMT00000214229,   OTTHUMT00000327693,   OTTHUMT00000327694,   UC010KVQ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36730,032,756 - 30,033,447 (-)MPROMDB

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18625 AgrOrtholog
COSMIC FKBP14 COSMIC
Ensembl Genes ENSG00000106080 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000222803 ENTREZGENE
  ENST00000222803.10 UniProtKB/Swiss-Prot
  ENST00000412494.1 UniProtKB/TrEMBL
  ENST00000419018.1 UniProtKB/TrEMBL
Gene3D-CATH 3.10.50.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF-hand UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000106080 GTEx
HGNC ID HGNC:18625 ENTREZGENE
Human Proteome Map FKBP14 Human Proteome Map
InterPro EF-hand-dom_pair UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_Hand_1_Ca_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_hand_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_FKBP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PPIase_FKBP_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:55033 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 55033 ENTREZGENE
OMIM 614505 OMIM
PANTHER PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PEPTIDYL-PROLYL CIS-TRANS ISOMERASE FKBP7/14 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam FKBP_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38608 PharmGKB
PROSITE EF_HAND_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  EF_HAND_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ER_TARGET UniProtKB/Swiss-Prot
  FKBP_PPIASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP FKBP-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF47473 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A090N7V8 ENTREZGENE, UniProtKB/TrEMBL
  F8WBZ0_HUMAN UniProtKB/TrEMBL
  FKB14_HUMAN UniProtKB/Swiss-Prot
  H7C1Z9_HUMAN UniProtKB/TrEMBL
  Q9NWM8 ENTREZGENE


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-11-06 FKBP14  FKBP prolyl isomerase 14  FKBP14  FK506 binding protein 14  Symbol and/or name change 5135510 APPROVED
2015-11-17 FKBP14  FK506 binding protein 14  FKBP14  FK506 binding protein 14, 22 kDa  Symbol and/or name change 5135510 APPROVED