TRPV3 (transient receptor potential cation channel subfamily V member 3) - Rat Genome Database

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Gene: TRPV3 (transient receptor potential cation channel subfamily V member 3) Homo sapiens
Analyze
Symbol: TRPV3
Name: transient receptor potential cation channel subfamily V member 3
RGD ID: 1344610
HGNC Page HGNC:18084
Description: Enables calcium channel activity and identical protein binding activity. Involved in negative regulation of hair cycle. Located in lysosome and plasma membrane. Part of receptor complex. Implicated in colorectal cancer; congenital stationary night blindness; keratosis (multiple); migraine with aura; and schizophrenia. Biomarker of rosacea.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: FNEPPK2; OLMS; OLMS1; transient receptor potential cation channel, subfamily V, member 3; vanilloid receptor 3; vanilloid receptor-like 3; vanilloid receptor-related osmotically activated channel protein; VRL-3; VRL3
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
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
GRCh38173,510,502 - 3,557,812 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,510,502 - 3,557,812 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,413,796 - 3,461,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,363,236 - 3,408,039 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,363,235 - 3,408,039NCBI
Celera173,430,192 - 3,475,028 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,305,340 - 3,352,994 (-)NCBIHuRef
CHM1_1173,424,206 - 3,472,113 (-)NCBICHM1_1
T2T-CHM13v2.0173,399,413 - 3,446,868 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-camphor  (EXP)
1,2-dimethylhydrazine  (ISO)
1,2-naphthoquinone  (EXP)
1,4-naphthoquinone  (EXP)
1-naphthol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP)
2,3-Dicresol  (EXP)
2,4-di-tert-butylphenol  (EXP)
2,4-xylenol  (EXP)
2,5-xylenol  (EXP)
2,6-Dimethylphenol  (EXP)
2-cyclohexyl-2-phenylacetic acid 2-(diethylamino)ethyl ester  (EXP)
2-Ethylphenol  (EXP)
2-Methoxy-4-methylphenol  (EXP)
3,4-xylenol  (EXP)
3,5-xylenol  (EXP)
3-Ethylphenol  (EXP)
4-ethylphenol  (EXP)
6-propyl-2-thiouracil  (ISO)
Aflatoxin B2 alpha  (EXP)
alpha-Zearalanol  (ISO)
amphetamine  (ISO)
aristolochic acid A  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[e]pyrene  (EXP)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol F  (ISO)
calcium atom  (ISO)
calcium(0)  (ISO)
camphor  (EXP)
Cannabichromene  (ISO)
cannabidiol  (EXP,ISO)
Cannabidivarin  (ISO)
cannabigerolic acid  (ISO)
carvacrol  (EXP,ISO)
Diallyl sulfide  (EXP)
diazinon  (EXP)
dimethylarsinic acid  (ISO)
esketamine  (EXP)
ethyl vanillin  (ISO)
eugenol  (EXP,ISO)
genistein  (ISO)
gentamycin  (ISO)
ionomycin  (ISO)
isopentenyl diphosphate  (EXP)
manganese atom  (EXP)
manganese(0)  (EXP)
manganese(II) chloride  (EXP)
methapyrilene  (EXP)
methylarsonic acid  (ISO)
olanzapine  (ISO)
ozone  (ISO)
paracetamol  (ISO)
permethrin  (EXP)
pirinixic acid  (ISO)
ruthenium red  (ISO)
silicon dioxide  (EXP)
sodium arsenate  (ISO)
sodium arsenite  (EXP,ISO)
sunitinib  (EXP)
thiram  (EXP)
thymol  (EXP,ISO)
thymol sulfate(1-)  (EXP,ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triphenyl phosphate  (EXP)
triptonide  (ISO)
valproic acid  (EXP)
vanillin  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component
cytoplasm  (IDA,IEA)
lysosome  (IDA,IEA)
membrane  (IEA)
plasma membrane  (IBA,IDA,IEA,TAS)
receptor complex  (IDA)

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View
References

References - curated
# Reference Title Reference Citation
1. Association of a mutation in TRPV3 with defective hair growth in rodents. Asakawa M, etal., J Invest Dermatol. 2006 Dec;126(12):2664-72. doi: 10.1038/sj.jid.5700468. Epub 2006 Jul 20.
2. SNP variants within the vanilloid TRPV1 and TRPV3 receptor genes are associated with migraine in the Spanish population. Carreno O, etal., Am J Med Genet B Neuropsychiatr Genet. 2012 Jan;159B(1):94-103. doi: 10.1002/ajmg.b.32007. Epub 2011 Dec 7.
3. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
4. Polymorphisms in fatty-acid-metabolism-related genes are associated with colorectal cancer risk. Hoeft B, etal., Carcinogenesis. 2010 Mar;31(3):466-72. doi: 10.1093/carcin/bgp325. Epub 2009 Dec 30.
5. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans. Li Z, etal., Am J Hum Genet. 2009 Nov;85(5):711-9. doi: 10.1016/j.ajhg.2009.10.003. Epub 2009 Oct 29.
6. Protective effects of incensole acetate on cerebral ischemic injury. Moussaieff A, etal., Brain Res. 2012 Mar 14;1443:89-97. doi: 10.1016/j.brainres.2012.01.001. Epub 2012 Jan 9.
7. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
8. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
9. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
10. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
11. Multiple genes in the 15q13-q14 chromosomal region are associated with schizophrenia. Stephens SH, etal., Psychiatr Genet. 2012 Feb;22(1):1-14. doi: 10.1097/YPG.0b013e32834c0c33.
12. Distribution and expression of non-neuronal transient receptor potential (TRPV) ion channels in rosacea. Sulk M, etal., J Invest Dermatol. 2012 Apr;132(4):1253-62. doi: 10.1038/jid.2011.424. Epub 2011 Dec 22.
Additional References at PubMed
PMID:12016205   PMID:12077604   PMID:12077606   PMID:12477932   PMID:14702039   PMID:16382100   PMID:17521436   PMID:18178557   PMID:18701070   PMID:18787888   PMID:18983665   PMID:19209153  
PMID:19864432   PMID:20395302   PMID:21321070   PMID:21490957   PMID:21593771   PMID:21873635   PMID:22006988   PMID:22405088   PMID:22475759   PMID:23382219   PMID:23692804   PMID:23800054  
PMID:23848361   PMID:24248473   PMID:24452206   PMID:24463422   PMID:24695993   PMID:25285920   PMID:25333484   PMID:25413349   PMID:25774551   PMID:25829496   PMID:26067147   PMID:26453324  
PMID:26818531   PMID:26902751   PMID:27023518   PMID:27079220   PMID:27273692   PMID:27754757   PMID:28154143   PMID:28462829   PMID:28717930   PMID:28905239   PMID:28964718   PMID:29084846  
PMID:29140280   PMID:30429472   PMID:31070581   PMID:31426314   PMID:31612282   PMID:31959383   PMID:32004565   PMID:32247859   PMID:32314439   PMID:32535744   PMID:32572252   PMID:32575443  
PMID:32795529   PMID:32938721   PMID:33035568   PMID:33675791   PMID:33961781   PMID:34058292   PMID:34664138   PMID:35666427   PMID:36063600   PMID:36423389   PMID:36499288   PMID:36690845  
PMID:36714978   PMID:36979447   PMID:37239947   PMID:37344508   PMID:37648856   PMID:37855862   PMID:38648901   PMID:38691614  


Genomics

Comparative Map Data
TRPV3
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38173,510,502 - 3,557,812 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl173,510,502 - 3,557,812 (-)EnsemblGRCh38hg38GRCh38
GRCh37173,413,796 - 3,461,106 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36173,363,236 - 3,408,039 (-)NCBINCBI36Build 36hg18NCBI36
Build 34173,363,235 - 3,408,039NCBI
Celera173,430,192 - 3,475,028 (-)NCBICelera
Cytogenetic Map17p13.2NCBI
HuRef173,305,340 - 3,352,994 (-)NCBIHuRef
CHM1_1173,424,206 - 3,472,113 (-)NCBICHM1_1
T2T-CHM13v2.0173,399,413 - 3,446,868 (-)NCBIT2T-CHM13v2.0
Trpv3
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm391173,158,315 - 73,191,194 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl1173,158,214 - 73,191,189 (+)EnsemblGRCm39 Ensembl
GRCm381173,267,489 - 73,300,368 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl1173,267,388 - 73,300,363 (+)EnsemblGRCm38mm10GRCm38
MGSCv371173,081,122 - 73,110,702 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv361173,083,815 - 73,113,395 (+)NCBIMGSCv36mm8
Celera1180,804,879 - 80,834,418 (+)NCBICelera
Cytogenetic Map11B4NCBI
cM Map1145.25NCBI
Trpv3
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81058,382,054 - 58,413,657 (+)NCBIGRCr8
mRatBN7.21057,883,546 - 57,915,865 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1057,883,546 - 57,913,296 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1062,539,748 - 62,569,511 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01062,028,216 - 62,057,979 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01057,527,346 - 57,557,111 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01059,829,755 - 59,863,780 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1059,831,241 - 59,860,987 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01059,570,474 - 59,600,221 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41060,126,243 - 60,171,718 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
Celera1057,006,489 - 57,036,234 (+)NCBICelera
Cytogenetic Map10q24NCBI
Trpv3
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495546713,248,599 - 13,276,718 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495546713,246,099 - 13,276,741 (+)NCBIChiLan1.0ChiLan1.0
TRPV3
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v21911,119,398 - 11,157,312 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11713,085,828 - 13,123,397 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0173,528,734 - 3,577,162 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1173,516,209 - 3,603,787 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl173,516,209 - 3,603,787 (-)Ensemblpanpan1.1panPan2
TRPV3
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1947,365,275 - 47,398,198 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl947,368,544 - 47,401,362 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha946,528,079 - 46,563,685 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0948,209,963 - 48,245,709 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl948,213,257 - 48,242,979 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1946,982,521 - 47,018,152 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0947,274,342 - 47,311,364 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0947,331,441 - 47,367,082 (-)NCBIUU_Cfam_GSD_1.0
Trpv3
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440560255,630,463 - 55,663,973 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_004936677239,435 - 270,512 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_004936677239,133 - 270,512 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TRPV3
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1249,635,927 - 49,671,613 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11249,638,852 - 49,671,671 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21251,498,820 - 51,529,161 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LOC103242154
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1162,975,771 - 3,062,952 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl163,019,602 - 3,059,594 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366605918,770,240 - 18,816,909 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Trpv3
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046247866,194,638 - 6,221,887 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046247866,191,463 - 6,224,435 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in TRPV3
356 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_145068.4(TRPV3):c.1717G>A (p.Gly573Ser) single nucleotide variant Olmsted syndrome 1 [RCV000023611]|not provided [RCV000059642] Chr17:3524224 [GRCh38]
Chr17:3427518 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.1717G>T (p.Gly573Cys) single nucleotide variant Olmsted syndrome 1 [RCV000023612]|not provided [RCV000059643] Chr17:3524224 [GRCh38]
Chr17:3427518 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.2074T>G (p.Trp692Gly) single nucleotide variant Olmsted syndrome 1 [RCV000023613]|not provided [RCV000059644] Chr17:3518587 [GRCh38]
Chr17:3421881 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh38/hg38 17p13.2(chr17:3543809-3658724)x3 copy number gain See cases [RCV000050798] Chr17:3543809..3658724 [GRCh38]
Chr17:3447103..3562018 [GRCh37]
Chr17:3393853..3508767 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:2357067-4328426)x3 copy number gain See cases [RCV000052456] Chr17:2357067..4328426 [GRCh38]
Chr17:2260361..4231721 [GRCh37]
Chr17:2207111..4178470 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:193307-5652222)x1 copy number loss See cases [RCV000053384] Chr17:193307..5652222 [GRCh38]
Chr17:45835..5555542 [GRCh37]
Chr17:43098..5496266 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3036729-3684667)x3 copy number gain See cases [RCV000053972] Chr17:3036729..3684667 [GRCh38]
Chr17:2940023..3587961 [GRCh37]
Chr17:2886773..3534710 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3208843-3839780)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053973]|See cases [RCV000053973] Chr17:3208843..3839780 [GRCh38]
Chr17:3112137..3743074 [GRCh37]
Chr17:3058887..3689823 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
NM_145068.3(TRPV3):c.640G>A (p.Glu214Lys) single nucleotide variant Malignant melanoma [RCV000071431] Chr17:3542525 [GRCh38]
Chr17:3445819 [GRCh37]
Chr17:3392569 [NCBI36]
Chr17:17p13.2		 not provided
NM_145068.4(TRPV3):c.2272C>T (p.Arg758Ter) single nucleotide variant Olmsted syndrome 1 [RCV001292735] Chr17:3514599 [GRCh38]
Chr17:3417893 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.2017C>T (p.Leu673Phe) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001198158]|Olmsted syndrome 1 [RCV000172845]|not provided [RCV001208559] Chr17:3518644 [GRCh38]
Chr17:3421938 [GRCh37]
Chr17:17p13.2		 pathogenic|likely pathogenic
NM_145068.4(TRPV3):c.1739A>C (p.Gln580Pro) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000172846] Chr17:3524202 [GRCh38]
Chr17:3427496 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062380-5258340)x1 copy number loss See cases [RCV000133721] Chr17:2062380..5258340 [GRCh38]
Chr17:1965674..5161635 [GRCh37]
Chr17:1912424..5102359 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.1(chr17:162088-6959050)x1 copy number loss See cases [RCV000134135] Chr17:162088..6959050 [GRCh38]
Chr17:45835..6862369 [GRCh37]
Chr17:11879..6803093 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3155468-3543868)x1 copy number loss See cases [RCV000133921] Chr17:3155468..3543868 [GRCh38]
Chr17:3058762..3447162 [GRCh37]
Chr17:3005512..3393912 [NCBI36]
Chr17:17p13.3-13.2		 benign
GRCh38/hg38 17p13.3-13.1(chr17:198748-7491129)x3 copy number gain See cases [RCV000134970] Chr17:198748..7491129 [GRCh38]
Chr17:50690..7394448 [GRCh37]
Chr17:48539..7335172 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:226472-3655099)x1 copy number loss See cases [RCV000135857] Chr17:226472..3655099 [GRCh38]
Chr17:396627..3558393 [GRCh37]
Chr17:76263..3505142 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:1348488-3513273)x3 copy number gain See cases [RCV000137603] Chr17:1348488..3513273 [GRCh38]
Chr17:1251782..3416567 [GRCh37]
Chr17:1198532..3363317 [NCBI36]
Chr17:17p13.3-13.2		 likely pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3102273-3667053)x3 copy number gain See cases [RCV000137331] Chr17:3102273..3667053 [GRCh38]
Chr17:3005567..3570347 [GRCh37]
Chr17:2952317..3517096 [NCBI36]
Chr17:17p13.3-13.2		 likely pathogenic|uncertain significance
GRCh38/hg38 17p13.3-13.1(chr17:162016-7697012)x1 copy number loss See cases [RCV000138214] Chr17:162016..7697012 [GRCh38]
Chr17:45835..7600330 [GRCh37]
Chr17:11807..7541055 [NCBI36]
Chr17:17p13.3-13.1		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:162016-12343901)x3 copy number gain See cases [RCV000138531] Chr17:162016..12343901 [GRCh38]
Chr17:45835..12247218 [GRCh37]
Chr17:11807..12187943 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:2062429-4141883)x3 copy number gain See cases [RCV000139738] Chr17:2062429..4141883 [GRCh38]
Chr17:1965723..4045177 [GRCh37]
Chr17:1912473..3991926 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.2(chr17:3494418-3727880)x1 copy number loss See cases [RCV000139722] Chr17:3494418..3727880 [GRCh38]
Chr17:3397712..3631174 [GRCh37]
Chr17:3344462..3577923 [NCBI36]
Chr17:17p13.2		 uncertain significance|conflicting data from submitters
GRCh38/hg38 17p13.2(chr17:3543809-3596080)x3 copy number gain See cases [RCV000141110] Chr17:3543809..3596080 [GRCh38]
Chr17:3447103..3499374 [GRCh37]
Chr17:3393853..3446123 [NCBI36]
Chr17:17p13.2		 likely benign
GRCh38/hg38 17p13.3-13.2(chr17:150732-5935377)x1 copy number loss See cases [RCV000141658] Chr17:150732..5935377 [GRCh38]
Chr17:525..5838697 [GRCh37]
Chr17:525..5779421 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:237248-4735533)x1 copy number loss See cases [RCV000141559] Chr17:237248..4735533 [GRCh38]
Chr17:396627..4638828 [GRCh37]
Chr17:87039..4585577 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3 copy number gain See cases [RCV000142236] Chr17:150732..14764202 [GRCh38]
Chr17:525..14667519 [GRCh37]
Chr17:525..14608244 [NCBI36]
Chr17:17p13.3-12		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:198748-4265640)x1 copy number loss See cases [RCV000142440] Chr17:198748..4265640 [GRCh38]
Chr17:50690..4168935 [GRCh37]
Chr17:48539..4115684 [NCBI36]
Chr17:17p13.3-13.2		 pathogenic
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3862518)x3 copy number gain See cases [RCV000142062] Chr17:3168370..3862518 [GRCh38]
Chr17:3071664..3765812 [GRCh37]
Chr17:3018414..3712561 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.2(chr17:3543809-3711347)x1 copy number loss See cases [RCV000142613] Chr17:3543809..3711347 [GRCh38]
Chr17:3447103..3614641 [GRCh37]
Chr17:3393853..3561390 [NCBI36]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3187406-3880628)x3 copy number gain See cases [RCV000142793] Chr17:3187406..3880628 [GRCh38]
Chr17:3090700..3783922 [GRCh37]
Chr17:3037450..3730671 [NCBI36]
Chr17:17p13.3-13.2		 uncertain significance
GRCh38/hg38 17p13.3-13.2(chr17:3168370-3852982)x3 copy number gain See cases [RCV000143610] Chr17:3168370..3852982 [GRCh38]
Chr17:3071664..3756276 [GRCh37]
Chr17:3018414..3703025 [NCBI36]
Chr17:17p13.3-13.2		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:919381-4046915)x3 copy number gain See cases [RCV000240175] Chr17:919381..4046915 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3392623-3663528)x3 copy number gain See cases [RCV000239943] Chr17:3392623..3663528 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1083C>T (p.Leu361=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000282738]|not provided [RCV000895820] Chr17:3530186 [GRCh38]
Chr17:3433480 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.807A>G (p.Ala269=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000299931]|TRPV3-related disorder [RCV003972376]|not provided [RCV002521101] Chr17:3532915 [GRCh38]
Chr17:3436209 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1841C>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000300532]|not provided [RCV004709599] Chr17:3512076 [GRCh38]
Chr17:3415370 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2094G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000283018] Chr17:3511823 [GRCh38]
Chr17:3415117 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.442C>G (p.Arg148Gly) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000302002] Chr17:3543498 [GRCh38]
Chr17:3446792 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1083A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000267572] Chr17:3512834 [GRCh38]
Chr17:3416128 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1882G>A (p.Ala628Thr) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000286016]|TRPV3-related disorder [RCV004757997]|not provided [RCV001712332] Chr17:3518779 [GRCh38]
Chr17:3422073 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1039T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000303959]|not provided [RCV004709603] Chr17:3512878 [GRCh38]
Chr17:3416172 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000267970]|not provided [RCV003688840] Chr17:3542676 [GRCh38]
Chr17:3445970 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2169C>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000286694] Chr17:3511748 [GRCh38]
Chr17:3415042 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*837A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000270071] Chr17:3513080 [GRCh38]
Chr17:3416374 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.224+8C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000270325]|Olmsted syndrome 1 [RCV002495015]|TRPV3-related disorder [RCV003912334]|not provided [RCV000971810] Chr17:3545159 [GRCh38]
Chr17:3448453 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1063G>A (p.Glu355Lys) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000288751] Chr17:3532659 [GRCh38]
Chr17:3435953 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.394G>A (p.Val132Met) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000271576]|not provided [RCV002061220] Chr17:3543546 [GRCh38]
Chr17:3446840 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1591G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000290421] Chr17:3512326 [GRCh38]
Chr17:3415620 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000273402]|Olmsted syndrome 1 [RCV002495014]|not provided [RCV000881611] Chr17:3513969 [GRCh38]
Chr17:3417263 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000291678]|not provided [RCV002522928] Chr17:3524243 [GRCh38]
Chr17:3427537 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*3196T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000291976] Chr17:3510721 [GRCh38]
Chr17:3414015 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000294786]|not provided [RCV000884619] Chr17:3532764 [GRCh38]
Chr17:3436058 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.3(TRPV3):c.-313C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000277512] Chr17:3557986 [GRCh38]
Chr17:3461280 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1565T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000296809]|not provided [RCV004710814] Chr17:3512352 [GRCh38]
Chr17:3415646 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000279490]|not provided [RCV000884203] Chr17:3518627 [GRCh38]
Chr17:3421921 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.558A>C (p.Ile186=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000298611]|Olmsted syndrome 1 [RCV001838618]|not provided [RCV001683294] Chr17:3542607 [GRCh38]
Chr17:3445901 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*3045G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000299462] Chr17:3510872 [GRCh38]
Chr17:3414166 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2352G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000280993]|not provided [RCV004709594] Chr17:3511565 [GRCh38]
Chr17:3414859 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-234C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000366336] Chr17:3557907 [GRCh38]
Chr17:3461201 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.1810+1G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000391064] Chr17:3520972 [GRCh38]
Chr17:3424266 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3149T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000391900] Chr17:3510768 [GRCh38]
Chr17:3414062 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2072A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000307569] Chr17:3511845 [GRCh38]
Chr17:3415139 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*1790G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000355400]|not provided [RCV004710813] Chr17:3512127 [GRCh38]
Chr17:3415421 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*1591del deletion Olmsted syndrome 1 [RCV000321254] Chr17:3512326 [GRCh38]
Chr17:3415620 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2068A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000343759] Chr17:3511849 [GRCh38]
Chr17:3415143 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1050G>A (p.Lys350=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000343836]|TRPV3-related disorder [RCV003922365]|not provided [RCV000967775] Chr17:3532672 [GRCh38]
Chr17:3435966 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1435A>T (p.Met479Leu) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000367866]|TRPV3-related disorder [RCV004757998]|not provided [RCV002056570] Chr17:3528093 [GRCh38]
Chr17:3431387 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*88G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000392046]|not provided [RCV001653571] Chr17:3513829 [GRCh38]
Chr17:3417123 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1424G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000311817] Chr17:3512493 [GRCh38]
Chr17:3415787 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*25dup duplication Olmsted syndrome 1 [RCV000276980] Chr17:3513891..3513892 [GRCh38]
Chr17:3417185..3417186 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.*1669G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000260138] Chr17:3512248 [GRCh38]
Chr17:3415542 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1243-4C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000260252] Chr17:3528999 [GRCh38]
Chr17:3432293 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2490T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000271445] Chr17:3511427 [GRCh38]
Chr17:3414721 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.6A>C (p.Lys2Asn) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000281783] Chr17:3554845 [GRCh38]
Chr17:3458139 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1590del deletion Olmsted syndrome 1 [RCV000345325] Chr17:3512327 [GRCh38]
Chr17:3415621 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2014A>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000368189] Chr17:3511903 [GRCh38]
Chr17:3415197 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2729A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000369492]|not provided [RCV004709592] Chr17:3511188 [GRCh38]
Chr17:3414482 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.936G>A (p.Thr312=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000393764]|Olmsted syndrome 1 [RCV001838617]|not provided [RCV001660664] Chr17:3532786 [GRCh38]
Chr17:3436080 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1503+13C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000313213]|not provided [RCV001643006] Chr17:3528012 [GRCh38]
Chr17:3431306 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1659G>A (p.Leu553=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000346553]|not provided [RCV002522929] Chr17:3524282 [GRCh38]
Chr17:3427576 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.1504-15C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000371320]|not provided [RCV002522931] Chr17:3526942 [GRCh38]
Chr17:3430236 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2808C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000395448] Chr17:3511109 [GRCh38]
Chr17:3414403 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.*63C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000365898] Chr17:3513854 [GRCh38]
Chr17:3417148 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.2331T>C (p.Asn777=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000367985]|not provided [RCV002056568] Chr17:3513959 [GRCh38]
Chr17:3417253 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2093C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000347479]|not provided [RCV004709597] Chr17:3511824 [GRCh38]
Chr17:3415118 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-279T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000369699] Chr17:3557952 [GRCh38]
Chr17:3461246 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.*2272T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000371936]|not provided [RCV004709595] Chr17:3511645 [GRCh38]
Chr17:3414939 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*56dup duplication Olmsted syndrome 1 [RCV000307801] Chr17:3513860..3513861 [GRCh38]
Chr17:3417154..3417155 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000306858] Chr17:3524319 [GRCh38]
Chr17:3427613 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000349742] Chr17:3532766 [GRCh38]
Chr17:3436060 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000349419]|TRPV3-related disorder [RCV004757999]|not provided [RCV000888023] Chr17:3554779 [GRCh38]
Chr17:3458073 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*576A>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000349813] Chr17:3513341 [GRCh38]
Chr17:3416635 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.20A>G (p.Glu7Gly) single nucleotide variant Inborn genetic diseases [RCV002522932]|Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000373772] Chr17:3554831 [GRCh38]
Chr17:3458125 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2278+10C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000373999]|not provided [RCV000967431] Chr17:3514583 [GRCh38]
Chr17:3417877 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*132G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000282223] Chr17:3513785 [GRCh38]
Chr17:3417079 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2279-15T>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000319314]|not provided [RCV002056569] Chr17:3514026 [GRCh38]
Chr17:3417320 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1236C>T (p.Asn412=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000322700]|not provided [RCV002521100] Chr17:3530033 [GRCh38]
Chr17:3433327 [GRCh37]
Chr17:17p13.2		 benign|likely benign|uncertain significance
NM_145068.4(TRPV3):c.*1940T>G single nucleotide variant Olmsted syndrome 1 [RCV000273621] Chr17:3511977 [GRCh38]
Chr17:3415271 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.3(TRPV3):c.-269A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000308120]|not provided [RCV004710815] Chr17:3557942 [GRCh38]
Chr17:3461236 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1078A>C (p.Ile360Leu) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000328451] Chr17:3530191 [GRCh38]
Chr17:3433485 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.*902T>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000328689]|not provided [RCV004709606] Chr17:3513015 [GRCh38]
Chr17:3416309 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2437A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000328891]|not provided [RCV004709593] Chr17:3511480 [GRCh38]
Chr17:3414774 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000328718]|Olmsted syndrome 1 [RCV001838619]|not provided [RCV001712043] Chr17:3543591 [GRCh38]
Chr17:3446885 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-226G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000309332] Chr17:3557899 [GRCh38]
Chr17:3461193 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.3(TRPV3):c.-318A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000330675] Chr17:3557991 [GRCh38]
Chr17:3461285 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1100T>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000353050] Chr17:3512817 [GRCh38]
Chr17:3416111 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000377278]|TRPV3-related disorder [RCV003910225]|not provided [RCV000955517] Chr17:3530164 [GRCh38]
Chr17:3433458 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2087T>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000402473] Chr17:3511830 [GRCh38]
Chr17:3415124 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-220G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000402759] Chr17:3557893 [GRCh38]
Chr17:3461187 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.270G>A (p.Gln90=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000381036]|Olmsted syndrome 1 [RCV001838620]|not provided [RCV001653573] Chr17:3544620 [GRCh38]
Chr17:3447914 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1621del deletion Olmsted syndrome 1 [RCV000379335] Chr17:3512296 [GRCh38]
Chr17:3415590 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.*3307G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000288504] Chr17:3510610 [GRCh38]
Chr17:3413904 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.119+10G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000332345]|not provided [RCV000890925] Chr17:3554722 [GRCh38]
Chr17:3458016 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.2358G>T (p.Pro786=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000332011]|TRPV3-related disorder [RCV003950099]|not provided [RCV002522927] Chr17:3513932 [GRCh38]
Chr17:3417226 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1258C>T (p.Leu420=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000355007]|not provided [RCV004709609] Chr17:3528980 [GRCh38]
Chr17:3432274 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1923C>T (p.Asp641=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000380409]|Olmsted syndrome 1 [RCV001838616]|not provided [RCV001536953] Chr17:3518738 [GRCh38]
Chr17:3422032 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.592G>A (p.Asp198Asn) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000404331]|not provided [RCV000959338] Chr17:3542573 [GRCh38]
Chr17:3445867 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.73A>G (p.Ile25Val) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000292252]|Olmsted syndrome 1 [RCV001838621]|not provided [RCV001618566] Chr17:3554778 [GRCh38]
Chr17:3458072 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2783G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000312284] Chr17:3511134 [GRCh38]
Chr17:3414428 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*3076A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000334482]|not provided [RCV004709590] Chr17:3510841 [GRCh38]
Chr17:3414135 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.-2-8T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000334418] Chr17:3554860 [GRCh38]
Chr17:3458154 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*1590T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000381806]|not provided [RCV004709600] Chr17:3512327 [GRCh38]
Chr17:3415621 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1503+15C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000405934]|not provided [RCV004709608] Chr17:3528010 [GRCh38]
Chr17:3431304 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.*3051A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000406300]|not provided [RCV004709591] Chr17:3510866 [GRCh38]
Chr17:3414160 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2054A>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000390581]|not provided [RCV004709598] Chr17:3511863 [GRCh38]
Chr17:3415157 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2115G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000391062]|not provided [RCV004709596] Chr17:3511802 [GRCh38]
Chr17:3415096 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1485G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000393122] Chr17:3512432 [GRCh38]
Chr17:3415726 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.*2671C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000277183] Chr17:3511246 [GRCh38]
Chr17:3414540 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2019A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000313242] Chr17:3511898 [GRCh38]
Chr17:3415192 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*949T>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000358695]|not provided [RCV004709604] Chr17:3512968 [GRCh38]
Chr17:3416262 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*842A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000383150] Chr17:3513075 [GRCh38]
Chr17:3416369 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1066-5C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000383214] Chr17:3530208 [GRCh38]
Chr17:3433502 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3255G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000383977] Chr17:3510662 [GRCh38]
Chr17:3413956 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.3(TRPV3):c.-142G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000407630]|not provided [RCV004709610] Chr17:3557815 [GRCh38]
Chr17:3461109 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.395T>C (p.Val132Ala) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000359231]|not provided [RCV002056572] Chr17:3543545 [GRCh38]
Chr17:3446839 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*279G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000385718] Chr17:3513638 [GRCh38]
Chr17:3416932 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.615C>T (p.Asn205=) single nucleotide variant Olmsted syndrome 1 [RCV000338452] Chr17:3542550 [GRCh38]
Chr17:3445844 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1229G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000338633]|not provided [RCV004709602] Chr17:3512688 [GRCh38]
Chr17:3415982 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.501G>A (p.Thr167=) single nucleotide variant Olmsted syndrome 1 [RCV000360419] Chr17:3542664 [GRCh38]
Chr17:3445958 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1419G>C (p.Leu473Phe) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000263637]|not provided [RCV002056571] Chr17:3528109 [GRCh38]
Chr17:3431403 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*58C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000403667] Chr17:3513859 [GRCh38]
Chr17:3417153 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000404990]|TRPV3-related disorder [RCV003972375]|not provided [RCV002522930] Chr17:3524287 [GRCh38]
Chr17:3427581 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.3(TRPV3):c.-190G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000339804]|not provided [RCV004709611] Chr17:3557863 [GRCh38]
Chr17:3461157 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*3154C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000339871]|not provided [RCV004709589] Chr17:3510763 [GRCh38]
Chr17:3414057 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*32C>T single nucleotide variant Olmsted syndrome 1 [RCV000362528] Chr17:3513885 [GRCh38]
Chr17:3417179 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2611G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000363647] Chr17:3511306 [GRCh38]
Chr17:3414600 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000388920]|not provided [RCV000948986] Chr17:3554756 [GRCh38]
Chr17:3458050 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1044C>T (p.Ala348=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000389036]|not provided [RCV003565408] Chr17:3532678 [GRCh38]
Chr17:3435972 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*940G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000264160]|not provided [RCV004709605] Chr17:3512977 [GRCh38]
Chr17:3416271 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1591_*1592insC insertion Olmsted syndrome 1 [RCV000266164]|not provided [RCV004694317] Chr17:3512325..3512326 [GRCh38]
Chr17:3415619..3415620 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*64TG[1] microsatellite Olmsted syndrome 1 [RCV000302054]|not provided [RCV001683293] Chr17:3513850..3513851 [GRCh38]
Chr17:3417144..3417145 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1533A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000351594]|not provided [RCV004709601] Chr17:3512384 [GRCh38]
Chr17:3415678 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1401+9G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000318851]|not provided [RCV000914392] Chr17:3528828 [GRCh38]
Chr17:3432122 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.1878C>T (p.Ser626=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000341015]|not provided [RCV001653572] Chr17:3518783 [GRCh38]
Chr17:3422077 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*84G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000341792] Chr17:3513833 [GRCh38]
Chr17:3417127 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*2153A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000341735] Chr17:3511764 [GRCh38]
Chr17:3415058 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.*656G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000389109]|not provided [RCV004709607] Chr17:3513261 [GRCh38]
Chr17:3416555 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-245G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000269325] Chr17:3557918 [GRCh38]
Chr17:3461212 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1729G>T (p.Val577Phe) single nucleotide variant not provided [RCV001547108] Chr17:3524212 [GRCh38]
Chr17:3427506 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_145068.4(TRPV3):c.881C>A (p.Ser294Ter) single nucleotide variant Olmsted syndrome 1 [RCV000490320] Chr17:3532841 [GRCh38]
Chr17:3436135 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.3(TRPV3):c.-177C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000304163] Chr17:3557850 [GRCh38]
Chr17:3461144 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2011A>G (p.Asn671Asp) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000315818] Chr17:3518650 [GRCh38]
Chr17:3421944 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2296T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000317310] Chr17:3511621 [GRCh38]
Chr17:3414915 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3340C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000333012] Chr17:3510577 [GRCh38]
Chr17:3413871 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1218G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000403257] Chr17:3512699 [GRCh38]
Chr17:3415993 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*631A>G single nucleotide variant Olmsted syndrome 1 [RCV000294868] Chr17:3513286 [GRCh38]
Chr17:3416580 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*74G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000406557] Chr17:3513843 [GRCh38]
Chr17:3417137 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*92A>C single nucleotide variant Olmsted syndrome 1 [RCV000337218] Chr17:3513825 [GRCh38]
Chr17:3417119 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3302TG[5] microsatellite Olmsted syndrome 1 [RCV000389855] Chr17:3510607..3510608 [GRCh38]
Chr17:3413901..3413902 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3148G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000286442] Chr17:3510769 [GRCh38]
Chr17:3414063 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*85A>G single nucleotide variant Olmsted syndrome 1 [RCV000286766] Chr17:3513832 [GRCh38]
Chr17:3417126 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1625C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000324652] Chr17:3512292 [GRCh38]
Chr17:3415586 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1110TG[1] microsatellite Olmsted syndrome 1 [RCV000299015] Chr17:3512804..3512805 [GRCh38]
Chr17:3416098..3416099 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*752dup duplication Olmsted syndrome 1 [RCV000325225] Chr17:3513164..3513165 [GRCh38]
Chr17:3416458..3416459 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2622G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000325318] Chr17:3511295 [GRCh38]
Chr17:3414589 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2895C>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000356594] Chr17:3511022 [GRCh38]
Chr17:3414316 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3295G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000327016] Chr17:3510622 [GRCh38]
Chr17:3413916 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2365T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV000376566] Chr17:3511552 [GRCh38]
Chr17:3414846 [GRCh37]
Chr17:17p13.2		 uncertain significance
Single allele deletion TAX1BP3-related arrhythmogenic right ventricular cardiomyopathy [RCV000735209] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_145068.4(TRPV3):c.1810+10T>A single nucleotide variant not provided [RCV000729730] Chr17:3520963 [GRCh38]
Chr17:3424257 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1703G>A (p.Gly568Asp) single nucleotide variant not provided [RCV000413873] Chr17:3524238 [GRCh38]
Chr17:3427532 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1751557-5378509)x1 copy number loss See cases [RCV000445994] Chr17:1751557..5378509 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.1(chr17:1113102-6742486) copy number gain See cases [RCV000445679] Chr17:1113102..6742486 [GRCh37]
Chr17:17p13.3-13.1		 pathogenic
NM_145068.4(TRPV3):c.1718G>T (p.Gly573Val) single nucleotide variant not provided [RCV000438765] Chr17:3524223 [GRCh38]
Chr17:3427517 [GRCh37]
Chr17:17p13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-3825428)x1 copy number loss See cases [RCV000511508] Chr17:525..3825428 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938) copy number gain See cases [RCV000511439] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-15027737)x3 copy number gain See cases [RCV000511786] Chr17:525..15027737 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:1922768-3429136)x3 copy number gain See cases [RCV000511855] Chr17:1922768..3429136 [GRCh37]
Chr17:17p13.3-13.2		 likely pathogenic
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss See cases [RCV000511267] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2339561-3447162) copy number loss Lissencephaly [RCV000626516] Chr17:2339561..3447162 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:525-4151421)x3 copy number gain See cases [RCV000512413] Chr17:525..4151421 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3 copy number gain See cases [RCV000512441] Chr17:526..81041938 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-12(chr17:525-11186432)x3 copy number gain not provided [RCV000683866] Chr17:525..11186432 [GRCh37]
Chr17:17p13.3-12		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2944083-3429136)x3 copy number gain not provided [RCV000683878] Chr17:2944083..3429136 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NC_000017.11:g.(?_3489235)_(3729555_?)del deletion Spongy degeneration of central nervous system [RCV000707830]|not provided [RCV001861925] Chr17:3489235..3729555 [GRCh38]
Chr17:3392529..3632849 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance|no classifications from unflagged records
GRCh37/hg19 17p13.3-q25.3(chr17:7214-81058310)x3 copy number gain not provided [RCV000739320] Chr17:7214..81058310 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:12344-81057996)x3 copy number gain not provided [RCV000739325] Chr17:12344..81057996 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-q25.3(chr17:8547-81060040)x3 copy number gain not provided [RCV000739324] Chr17:8547..81060040 [GRCh37]
Chr17:17p13.3-q25.3		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:7214-3871323)x1 copy number loss not provided [RCV000739319] Chr17:7214..3871323 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.2(chr17:3336162-4918458)x1 copy number loss not provided [RCV000739374] Chr17:3336162..4918458 [GRCh37]
Chr17:17p13.2		 likely pathogenic
NM_145068.4(TRPV3):c.1066-98G>A single nucleotide variant not provided [RCV001609973] Chr17:3530301 [GRCh38]
Chr17:3433595 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1744-174A>G single nucleotide variant not provided [RCV001708809] Chr17:3521213 [GRCh38]
Chr17:3424507 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1971G>A (p.Leu657=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126133]|not provided [RCV000916531] Chr17:3518690 [GRCh38]
Chr17:3421984 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.1402-266C>T single nucleotide variant not provided [RCV001708591] Chr17:3528392 [GRCh38]
Chr17:3431686 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1743+50T>C single nucleotide variant not provided [RCV001666966] Chr17:3524148 [GRCh38]
Chr17:3427442 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1503+336C>T single nucleotide variant not provided [RCV001667686] Chr17:3527689 [GRCh38]
Chr17:3430983 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1066-259T>C single nucleotide variant not provided [RCV001612234] Chr17:3530462 [GRCh38]
Chr17:3433756 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2050166-4315506)x1 copy number loss not provided [RCV000751897] Chr17:2050166..4315506 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.852C>T (p.His284=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128294]|not provided [RCV000922831] Chr17:3532870 [GRCh38]
Chr17:3436164 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.415C>T (p.Leu139=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122584]|not provided [RCV000966453] Chr17:3543525 [GRCh38]
Chr17:3446819 [GRCh37]
Chr17:17p13.2		 benign|likely benign
GRCh37/hg19 17p13.2(chr17:3431968-3518264)x1 copy number loss not provided [RCV001006861] Chr17:3431968..3518264 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2199-34_2199-33insA insertion not provided [RCV001643314] Chr17:3514705..3514706 [GRCh38]
Chr17:3417999..3418000 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1281G>A (p.Thr427=) single nucleotide variant not provided [RCV000897581] Chr17:3528957 [GRCh38]
Chr17:3432251 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.2334A>T (p.Ala778=) single nucleotide variant not provided [RCV000974420] Chr17:3513956 [GRCh38]
Chr17:3417250 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:47546-6287620) copy number gain Chromosome 17P13.3, telomeric, duplication syndrome [RCV000767586] Chr17:47546..6287620 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:3288124-3441645)x1 copy number loss not provided [RCV000849665] Chr17:3288124..3441645 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3160211-3424544)x3 copy number gain not provided [RCV000846629] Chr17:3160211..3424544 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001542608]|Olmsted syndrome 1 [RCV000989679] Chr17:3524238 [GRCh38]
Chr17:3427532 [GRCh37]
Chr17:17p13.2		 pathogenic|likely pathogenic
GRCh37/hg19 17p13.2(chr17:3405774-3640694)x1 copy number loss not provided [RCV000848897] Chr17:3405774..3640694 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:3146183-3646235)x3 copy number gain not provided [RCV001006859] Chr17:3146183..3646235 [GRCh37]
Chr17:17p13.3-13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:8547-5627408)x1 copy number loss See cases [RCV001007429] Chr17:8547..5627408 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.652G>C (p.Ala218Pro) single nucleotide variant Inborn genetic diseases [RCV003292849] Chr17:3535705 [GRCh38]
Chr17:3438999 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3258G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001127837] Chr17:3510659 [GRCh38]
Chr17:3413953 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2432C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001127935] Chr17:3511485 [GRCh38]
Chr17:3414779 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1500C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128025] Chr17:3512417 [GRCh38]
Chr17:3415711 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3394299-3632836) copy number loss Primary familial dilated cardiomyopathy [RCV001195115] Chr17:3394299..3632836 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1328C>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122262] Chr17:3512589 [GRCh38]
Chr17:3415883 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2197C>T (p.Arg733Trp) single nucleotide variant Inborn genetic diseases [RCV004032260]|Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125161] Chr17:3516458 [GRCh38]
Chr17:3419752 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2050G>A (p.Val684Ile) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125165] Chr17:3518611 [GRCh38]
Chr17:3421905 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*276C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128120] Chr17:3513641 [GRCh38]
Chr17:3416935 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*207T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128121]|not provided [RCV004694802] Chr17:3513710 [GRCh38]
Chr17:3417004 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*186G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128122] Chr17:3513731 [GRCh38]
Chr17:3417025 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1700G>A (p.Arg567Gln) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128220] Chr17:3524241 [GRCh38]
Chr17:3427535 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.784+11C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128295]|not provided [RCV002556806] Chr17:3535562 [GRCh38]
Chr17:3438856 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.3(TRPV3):c.-311A>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122670] Chr17:3557984 [GRCh38]
Chr17:3461278 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2610C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125816] Chr17:3511307 [GRCh38]
Chr17:3414601 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2278+183C>T single nucleotide variant not provided [RCV001611372] Chr17:3514410 [GRCh38]
Chr17:3417704 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.644-253A>C single nucleotide variant not provided [RCV001620280] Chr17:3535966 [GRCh38]
Chr17:3439260 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1243-313A>G single nucleotide variant not provided [RCV001672068] Chr17:3529308 [GRCh38]
Chr17:3432602 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1066-46T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001838755]|Olmsted syndrome 1 [RCV001838754]|not provided [RCV001669996] Chr17:3530249 [GRCh38]
Chr17:3433543 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.119+148A>G single nucleotide variant not provided [RCV001635626] Chr17:3554584 [GRCh38]
Chr17:3457878 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+10G>C single nucleotide variant not provided [RCV000909757] Chr17:3516447 [GRCh38]
Chr17:3419741 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1935G>T (p.Gln645His) single nucleotide variant Inborn genetic diseases [RCV004032265]|Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126134] Chr17:3518726 [GRCh38]
Chr17:3422020 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.3(TRPV3):c.*3428A>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001127836] Chr17:3510489 [GRCh38]
Chr17:3413783 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.540C>A (p.Asn180Lys) single nucleotide variant Inborn genetic diseases [RCV004032239]|Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122583]|not provided [RCV003558686] Chr17:3542625 [GRCh38]
Chr17:3445919 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.643+2T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128299] Chr17:3542520 [GRCh38]
Chr17:3445814 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.276T>C (p.Asp92=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001123663] Chr17:3544614 [GRCh38]
Chr17:3447908 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2784G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124838] Chr17:3511133 [GRCh38]
Chr17:3414427 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2054A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124944] Chr17:3511863 [GRCh38]
Chr17:3415157 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2235C>T (p.His745=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125160] Chr17:3514636 [GRCh38]
Chr17:3417930 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2086-5C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125163]|not provided [RCV003106123] Chr17:3516574 [GRCh38]
Chr17:3419868 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.2078G>A (p.Arg693His) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125164]|not provided [RCV001856643] Chr17:3518583 [GRCh38]
Chr17:3421877 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.1242C>T (p.Asp414=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125274] Chr17:3530027 [GRCh38]
Chr17:3433321 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1843C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125921] Chr17:3512074 [GRCh38]
Chr17:3415368 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1767T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125922] Chr17:3512150 [GRCh38]
Chr17:3415444 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2278+9G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122378]|not provided [RCV000957510] Chr17:3514584 [GRCh38]
Chr17:3417878 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.955C>T (p.Arg319Cys) single nucleotide variant Inborn genetic diseases [RCV004029602]|Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126247]|not provided [RCV000933603] Chr17:3532767 [GRCh38]
Chr17:3436061 [GRCh37]
Chr17:17p13.2		 benign|likely benign|uncertain significance
NM_145068.4(TRPV3):c.119+272G>C single nucleotide variant not provided [RCV001637169] Chr17:3554460 [GRCh38]
Chr17:3457754 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1592T>C (p.Val531Ala) single nucleotide variant not provided [RCV001551587] Chr17:3524349 [GRCh38]
Chr17:3427643 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1401+162A>G single nucleotide variant not provided [RCV001682138] Chr17:3528675 [GRCh38]
Chr17:3431969 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+62G>A single nucleotide variant not provided [RCV001723157] Chr17:3516395 [GRCh38]
Chr17:3419689 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1811-222G>T single nucleotide variant not provided [RCV001723163] Chr17:3519072 [GRCh38]
Chr17:3422366 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+270del deletion not provided [RCV001619253] Chr17:3516187 [GRCh38]
Chr17:3419481 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+256C>T single nucleotide variant not provided [RCV001597373] Chr17:3516201 [GRCh38]
Chr17:3419495 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1810+84T>C single nucleotide variant not provided [RCV001685145] Chr17:3520889 [GRCh38]
Chr17:3424183 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+339C>T single nucleotide variant not provided [RCV001661056] Chr17:3516118 [GRCh38]
Chr17:3419412 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1504-274G>A single nucleotide variant not provided [RCV001621600] Chr17:3527201 [GRCh38]
Chr17:3430495 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1066-184_1066-174dup duplication not provided [RCV001677674] Chr17:3530376..3530377 [GRCh38]
Chr17:3433670..3433671 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2278+234T>C single nucleotide variant not provided [RCV001613501] Chr17:3514359 [GRCh38]
Chr17:3417653 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.119+65dup duplication not provided [RCV001620602] Chr17:3554660..3554661 [GRCh38]
Chr17:3457954..3457955 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1811-209T>C single nucleotide variant not provided [RCV001594576] Chr17:3519059 [GRCh38]
Chr17:3422353 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1066-175G>T single nucleotide variant not provided [RCV001637853] Chr17:3530378 [GRCh38]
Chr17:3433672 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.312-208G>A single nucleotide variant not provided [RCV001673963] Chr17:3543836 [GRCh38]
Chr17:3447130 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2199-238T>C single nucleotide variant not provided [RCV001654033] Chr17:3514910 [GRCh38]
Chr17:3418204 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.224+200A>G single nucleotide variant not provided [RCV001677143] Chr17:3544967 [GRCh38]
Chr17:3448261 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1380T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128026] Chr17:3512537 [GRCh38]
Chr17:3415831 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2245C>G (p.Leu749Val) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125159] Chr17:3514626 [GRCh38]
Chr17:3417920 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1043T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125046] Chr17:3512874 [GRCh38]
Chr17:3416168 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2604G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125817] Chr17:3511313 [GRCh38]
Chr17:3414607 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2485G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125818] Chr17:3511432 [GRCh38]
Chr17:3414726 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*552C>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126025] Chr17:3513365 [GRCh38]
Chr17:3416659 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1045G>A (p.Ala349Thr) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126246] Chr17:3532677 [GRCh38]
Chr17:3435971 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2391C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001127936] Chr17:3511526 [GRCh38]
Chr17:3414820 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.380T>C (p.Val127Ala) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001123662] Chr17:3543560 [GRCh38]
Chr17:3446854 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.*3155G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122065] Chr17:3510762 [GRCh38]
Chr17:3414056 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1186C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122265] Chr17:3512731 [GRCh38]
Chr17:3416025 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.671A>G (p.Glu224Gly) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128298] Chr17:3535686 [GRCh38]
Chr17:3438980 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.619G>A (p.Glu207Lys) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128300] Chr17:3542546 [GRCh38]
Chr17:3445840 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1272C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122264] Chr17:3512645 [GRCh38]
Chr17:3415939 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*49C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122377] Chr17:3513868 [GRCh38]
Chr17:3417162 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1487G>A (p.Cys496Tyr) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122488] Chr17:3528041 [GRCh38]
Chr17:3431335 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1401+4C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122490]|not provided [RCV003688905] Chr17:3528833 [GRCh38]
Chr17:3432127 [GRCh37]
Chr17:17p13.2		 benign|uncertain significance
NM_145068.4(TRPV3):c.1281G>T (p.Thr427=) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122491]|not provided [RCV003688906] Chr17:3528957 [GRCh38]
Chr17:3432251 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1065+260G>A single nucleotide variant not provided [RCV001707147] Chr17:3532397 [GRCh38]
Chr17:3435691 [GRCh37]
Chr17:17p13.2		 benign
GRCh37/hg19 17p13.3-13.2(chr17:2313096-3735525)x1 copy number loss not provided [RCV001537893] Chr17:2313096..3735525 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.644-242G>T single nucleotide variant not provided [RCV001641389] Chr17:3535955 [GRCh38]
Chr17:3439249 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1066-52T>G single nucleotide variant not provided [RCV001696615] Chr17:3530255 [GRCh38]
Chr17:3433549 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.224+130T>A single nucleotide variant not provided [RCV001693751] Chr17:3545037 [GRCh38]
Chr17:3448331 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2199-61C>T single nucleotide variant not provided [RCV001694825] Chr17:3514733 [GRCh38]
Chr17:3418027 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2199-156_2199-154del microsatellite not provided [RCV001649518] Chr17:3514826..3514828 [GRCh38]
Chr17:3418120..3418122 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1504-50T>C single nucleotide variant not provided [RCV001696517] Chr17:3526977 [GRCh38]
Chr17:3430271 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1968A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124945] Chr17:3511949 [GRCh38]
Chr17:3415243 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1105T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125045] Chr17:3512812 [GRCh38]
Chr17:3416106 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2278+3A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125158] Chr17:3514590 [GRCh38]
Chr17:3417884 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*3114C>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122066] Chr17:3510803 [GRCh38]
Chr17:3414097 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*1111G>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122266] Chr17:3512806 [GRCh38]
Chr17:3416100 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1427C>T (p.Thr476Met) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122489] Chr17:3528101 [GRCh38]
Chr17:3431395 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*1950C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125920] Chr17:3511967 [GRCh38]
Chr17:3415261 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.853G>A (p.Glu285Lys) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001126248] Chr17:3532869 [GRCh38]
Chr17:3436163 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.2(chr17:3392348-3631198)x1 copy number loss not provided [RCV001006860] Chr17:3392348..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.784+4G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128296] Chr17:3535569 [GRCh38]
Chr17:3438863 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.682G>C (p.Gly228Arg) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001128297] Chr17:3535675 [GRCh38]
Chr17:3438969 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2760A>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124839] Chr17:3511157 [GRCh38]
Chr17:3414451 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.*2757C>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124840] Chr17:3511160 [GRCh38]
Chr17:3414454 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2702A>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001124841] Chr17:3511215 [GRCh38]
Chr17:3414509 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2185C>T (p.Arg729Ter) single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125162] Chr17:3516470 [GRCh38]
Chr17:3419764 [GRCh37]
Chr17:17p13.2		 pathogenic|benign
NM_145068.4(TRPV3):c.*1280G>A single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122263] Chr17:3512637 [GRCh38]
Chr17:3415931 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.*2477T>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001125819] Chr17:3511440 [GRCh38]
Chr17:3414734 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.3(TRPV3):c.-327T>G single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001122671] Chr17:3558000 [GRCh38]
Chr17:3461294 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1504-166C>T single nucleotide variant not provided [RCV001527823] Chr17:3527093 [GRCh38]
Chr17:3430387 [GRCh37]
Chr17:17p13.2		 benign
NC_000017.10:g.(?_3392519)_(3564038_?)del deletion Ocular cystinosis [RCV001381609]|Spongy degeneration of central nervous system [RCV001383990] Chr17:3392519..3564038 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.1867G>A (p.Gly623Ser) single nucleotide variant not provided [RCV001311475] Chr17:3518794 [GRCh38]
Chr17:3422088 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1065+16G>T single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001838742]|Olmsted syndrome 1 [RCV001838741]|not provided [RCV001666617] Chr17:3532641 [GRCh38]
Chr17:3435935 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.120-157C>T single nucleotide variant not provided [RCV001614758] Chr17:3545428 [GRCh38]
Chr17:3448722 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1065+79T>C single nucleotide variant not provided [RCV001691472] Chr17:3532578 [GRCh38]
Chr17:3435872 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1402-112C>T single nucleotide variant not provided [RCV001649828] Chr17:3528238 [GRCh38]
Chr17:3431532 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.643+275T>C single nucleotide variant not provided [RCV001649270] Chr17:3542247 [GRCh38]
Chr17:3445541 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1503+154G>T single nucleotide variant not provided [RCV001686759] Chr17:3527871 [GRCh38]
Chr17:3431165 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2198+61T>C single nucleotide variant not provided [RCV001693739] Chr17:3516396 [GRCh38]
Chr17:3419690 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.224+27T>C single nucleotide variant Isolated focal non-epidermolytic palmoplantar keratoderma [RCV001838806]|Olmsted syndrome 1 [RCV001838805]|not provided [RCV001689482] Chr17:3545140 [GRCh38]
Chr17:3448434 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.224+189G>A single nucleotide variant not provided [RCV001670062] Chr17:3544978 [GRCh38]
Chr17:3448272 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.956G>T (p.Arg319Leu) single nucleotide variant Inborn genetic diseases [RCV002563355]|not provided [RCV001503691] Chr17:3532766 [GRCh38]
Chr17:3436060 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2646815-3698838)x3 copy number gain not provided [RCV001834365] Chr17:2646815..3698838 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:2809266-3424183)x3 copy number gain not provided [RCV001827915] Chr17:2809266..3424183 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3377621-3449869)x1 copy number loss not provided [RCV001827858] Chr17:3377621..3449869 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.379G>A (p.Val127Met) single nucleotide variant not provided [RCV001969911] Chr17:3543561 [GRCh38]
Chr17:3446855 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3392509)_(3571820_?)del deletion Ocular cystinosis [RCV003120774]|Spongy degeneration of central nervous system [RCV003120773]|not provided [RCV002014486] Chr17:3392509..3571820 [GRCh37]
Chr17:17p13.2		 pathogenic|uncertain significance|no classifications from unflagged records
NM_145068.4(TRPV3):c.158A>G (p.Asn53Ser) single nucleotide variant not provided [RCV002051291] Chr17:3545233 [GRCh38]
Chr17:3448527 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_2541583)_(3819519_?)del deletion not provided [RCV001901409] Chr17:2541583..3819519 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NC_000017.10:g.(?_1173858)_(3819519_?)dup duplication not provided [RCV002014058] Chr17:1173858..3819519 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_145068.4(TRPV3):c.1066-4C>G single nucleotide variant not provided [RCV002111575] Chr17:3530207 [GRCh38]
Chr17:3433501 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.183T>C (p.Pro61=) single nucleotide variant TRPV3-related disorder [RCV003941295]|not provided [RCV002172218] Chr17:3545208 [GRCh38]
Chr17:3448502 [GRCh37]
Chr17:17p13.2		 likely benign
NC_000017.10:g.(?_3447853)_(3571820_?)dup duplication not provided [RCV003116642] Chr17:3447853..3571820 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_3379454)_(3819519_?)del deletion Spongy degeneration of central nervous system [RCV003119152] Chr17:3379454..3819519 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.67C>T (p.Pro23Ser) single nucleotide variant not provided [RCV002288099] Chr17:3554784 [GRCh38]
Chr17:3458078 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1680G>A (p.Ala560=) single nucleotide variant not provided [RCV002262531] Chr17:3524261 [GRCh38]
Chr17:3427555 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.347A>C (p.Lys116Thr) single nucleotide variant Inborn genetic diseases [RCV003254158] Chr17:3543593 [GRCh38]
Chr17:3446887 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1495G>C (p.Val499Leu) single nucleotide variant Inborn genetic diseases [RCV003305019] Chr17:3528033 [GRCh38]
Chr17:3431327 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:1095592-3484368)x3 copy number gain not provided [RCV002472591] Chr17:1095592..3484368 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.119+15C>G single nucleotide variant not provided [RCV002839315] Chr17:3554717 [GRCh38]
Chr17:3458011 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.809C>T (p.Ala270Val) single nucleotide variant Inborn genetic diseases [RCV002728387] Chr17:3532913 [GRCh38]
Chr17:3436207 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3392984-3631198)x1 copy number loss not provided [RCV002475719] Chr17:3392984..3631198 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1251T>G (p.His417Gln) single nucleotide variant Inborn genetic diseases [RCV002840372] Chr17:3528987 [GRCh38]
Chr17:3432281 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV002614156] Chr17:3554824 [GRCh38]
Chr17:3458118 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1246C>T (p.Arg416Trp) single nucleotide variant not provided [RCV002995260] Chr17:3528992 [GRCh38]
Chr17:3432286 [GRCh37]
Chr17:17p13.2		 pathogenic
NM_145068.4(TRPV3):c.2173G>A (p.Glu725Lys) single nucleotide variant Inborn genetic diseases [RCV003087919]|not provided [RCV003073551] Chr17:3516482 [GRCh38]
Chr17:3419776 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.2149A>T (p.Met717Leu) single nucleotide variant not provided [RCV002994267] Chr17:3516506 [GRCh38]
Chr17:3419800 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.488C>T (p.Thr163Met) single nucleotide variant Inborn genetic diseases [RCV004681588]|not provided [RCV002993583] Chr17:3542677 [GRCh38]
Chr17:3445971 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1010G>A (p.Arg337His) single nucleotide variant Inborn genetic diseases [RCV002970426] Chr17:3532712 [GRCh38]
Chr17:3436006 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2262G>T (p.Gly754=) single nucleotide variant not provided [RCV003097461] Chr17:3514609 [GRCh38]
Chr17:3417903 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.769G>A (p.Glu257Lys) single nucleotide variant not provided [RCV002658807] Chr17:3535588 [GRCh38]
Chr17:3438882 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2221G>A (p.Glu741Lys) single nucleotide variant Inborn genetic diseases [RCV002845297] Chr17:3514650 [GRCh38]
Chr17:3417944 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1695T>C (p.Tyr565=) single nucleotide variant not provided [RCV003100244] Chr17:3524246 [GRCh38]
Chr17:3427540 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1255A>G (p.Met419Val) single nucleotide variant Inborn genetic diseases [RCV002823507] Chr17:3528983 [GRCh38]
Chr17:3432277 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1032G>A (p.Pro344=) single nucleotide variant not provided [RCV002923294] Chr17:3532690 [GRCh38]
Chr17:3435984 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.500C>A (p.Thr167Lys) single nucleotide variant Inborn genetic diseases [RCV002783437] Chr17:3542665 [GRCh38]
Chr17:3445959 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2279-10T>A single nucleotide variant not provided [RCV002949203] Chr17:3514021 [GRCh38]
Chr17:3417315 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.582T>C (p.Ala194=) single nucleotide variant not provided [RCV002932770] Chr17:3542583 [GRCh38]
Chr17:3445877 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1878C>A (p.Ser626Arg) single nucleotide variant not provided [RCV002643643] Chr17:3518783 [GRCh38]
Chr17:3422077 [GRCh37]
Chr17:17p13.2		 likely benign|uncertain significance
NM_145068.4(TRPV3):c.296A>C (p.Asn99Thr) single nucleotide variant Inborn genetic diseases [RCV002955942] Chr17:3544594 [GRCh38]
Chr17:3447888 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1743+19C>T single nucleotide variant not provided [RCV002790056] Chr17:3524179 [GRCh38]
Chr17:3427473 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.1237A>C (p.Ile413Leu) single nucleotide variant Inborn genetic diseases [RCV002915106] Chr17:3530032 [GRCh38]
Chr17:3433326 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2258C>G (p.Pro753Arg) single nucleotide variant Inborn genetic diseases [RCV002764022] Chr17:3514613 [GRCh38]
Chr17:3417907 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.72_73inv (p.Ile25Val) inversion not provided [RCV003082282] Chr17:3554778..3554779 [GRCh38]
Chr17:3458072..3458073 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1743+20G>A single nucleotide variant not provided [RCV002786392] Chr17:3524178 [GRCh38]
Chr17:3427472 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2006T>C (p.Leu669Pro) single nucleotide variant not provided [RCV002575511] Chr17:3518655 [GRCh38]
Chr17:3421949 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.93G>A (p.Pro31=) single nucleotide variant TRPV3-related disorder [RCV003906445]|not provided [RCV003005298] Chr17:3554758 [GRCh38]
Chr17:3458052 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.389G>T (p.Gly130Val) single nucleotide variant Inborn genetic diseases [RCV002767890] Chr17:3543551 [GRCh38]
Chr17:3446845 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1743+16C>T single nucleotide variant not provided [RCV002790299] Chr17:3524182 [GRCh38]
Chr17:3427476 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.259C>A (p.Gln87Lys) single nucleotide variant not provided [RCV002508671] Chr17:3544631 [GRCh38]
Chr17:3447925 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.353G>A (p.Arg118Gln) single nucleotide variant Inborn genetic diseases [RCV002921328] Chr17:3543587 [GRCh38]
Chr17:3446881 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2232G>A (p.Thr744=) single nucleotide variant not provided [RCV002967374] Chr17:3514639 [GRCh38]
Chr17:3417933 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.476T>C (p.Met159Thr) single nucleotide variant Inborn genetic diseases [RCV002940638] Chr17:3542689 [GRCh38]
Chr17:3445983 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.856C>G (p.Gln286Glu) single nucleotide variant not provided [RCV002630272] Chr17:3532866 [GRCh38]
Chr17:3436160 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1280C>T (p.Thr427Met) single nucleotide variant not provided [RCV002963050] Chr17:3528958 [GRCh38]
Chr17:3432252 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1061C>T (p.Ala354Val) single nucleotide variant not provided [RCV002900557] Chr17:3532661 [GRCh38]
Chr17:3435955 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.352C>T (p.Arg118Trp) single nucleotide variant not provided [RCV002630020] Chr17:3543588 [GRCh38]
Chr17:3446882 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1706T>C (p.Phe569Ser) single nucleotide variant not provided [RCV002720397] Chr17:3524235 [GRCh38]
Chr17:3427529 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2278+5T>C single nucleotide variant not provided [RCV002943536] Chr17:3514588 [GRCh38]
Chr17:3417882 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.117G>A (p.Lys39=) single nucleotide variant not provided [RCV003032104] Chr17:3554734 [GRCh38]
Chr17:3458028 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1112G>A (p.Arg371Gln) single nucleotide variant Inborn genetic diseases [RCV002652418] Chr17:3530157 [GRCh38]
Chr17:3433451 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1786G>A (p.Val596Met) single nucleotide variant not provided [RCV003069551] Chr17:3520997 [GRCh38]
Chr17:3424291 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.903C>T (p.His301=) single nucleotide variant TRPV3-related disorder [RCV003936569]|not provided [RCV002588207] Chr17:3532819 [GRCh38]
Chr17:3436113 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.278T>C (p.Val93Ala) single nucleotide variant not provided [RCV002609082] Chr17:3544612 [GRCh38]
Chr17:3447906 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1391G>A (p.Arg464Gln) single nucleotide variant Inborn genetic diseases [RCV003217751] Chr17:3528847 [GRCh38]
Chr17:3432141 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.42G>T (p.Lys14Asn) single nucleotide variant Inborn genetic diseases [RCV003219645] Chr17:3554809 [GRCh38]
Chr17:3458103 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1676G>A (p.Trp559Ter) single nucleotide variant not provided [RCV003142846] Chr17:3524265 [GRCh38]
Chr17:3427559 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.652G>T (p.Ala218Ser) single nucleotide variant Inborn genetic diseases [RCV003214353] Chr17:3535705 [GRCh38]
Chr17:3438999 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3 copy number gain Chromosome 17p13.3 duplication syndrome [RCV003327726] Chr17:165730..11404096 [GRCh38]
Chr17:17p13.3-12		 pathogenic
NM_145068.4(TRPV3):c.736A>G (p.Lys246Glu) single nucleotide variant Inborn genetic diseases [RCV003367447] Chr17:3535621 [GRCh38]
Chr17:3438915 [GRCh37]
Chr17:17p13.2		 uncertain significance
Single allele deletion not provided [RCV003448682] Chr17:2..4611147 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:526-3441645)x1 copy number loss not provided [RCV003483307] Chr17:526..3441645 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
GRCh37/hg19 17p13.3-13.2(chr17:2433587-3484368)x1 copy number loss not provided [RCV003483311] Chr17:2433587..3484368 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.199C>T (p.Pro67Ser) single nucleotide variant not provided [RCV003428059] Chr17:3545192 [GRCh38]
Chr17:3448486 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.644-5C>T single nucleotide variant not provided [RCV003694764] Chr17:3535718 [GRCh38]
Chr17:3439012 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.825C>T (p.Pro275=) single nucleotide variant not provided [RCV003739467] Chr17:3532897 [GRCh38]
Chr17:3436191 [GRCh37]
Chr17:17p13.2		 benign
NM_145068.4(TRPV3):c.2113A>G (p.Lys705Glu) single nucleotide variant not provided [RCV003696728] Chr17:3516542 [GRCh38]
Chr17:3419836 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.119+20G>C single nucleotide variant not provided [RCV003688078] Chr17:3554712 [GRCh38]
Chr17:3458006 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.652G>A (p.Ala218Thr) single nucleotide variant not provided [RCV003690746] Chr17:3535705 [GRCh38]
Chr17:3438999 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1645G>A (p.Ala549Thr) single nucleotide variant not provided [RCV003739306] Chr17:3524296 [GRCh38]
Chr17:3427590 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.495C>T (p.Ser165=) single nucleotide variant not provided [RCV003545485] Chr17:3542670 [GRCh38]
Chr17:3445964 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.49G>C (p.Ala17Pro) single nucleotide variant not provided [RCV003716903] Chr17:3554802 [GRCh38]
Chr17:3458096 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.625A>G (p.Thr209Ala) single nucleotide variant not provided [RCV003852865] Chr17:3542540 [GRCh38]
Chr17:3445834 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1249C>G (p.His417Asp) single nucleotide variant not provided [RCV003856477] Chr17:3528989 [GRCh38]
Chr17:3432283 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2278+8C>T single nucleotide variant TRPV3-related disorder [RCV003909039]|not provided [RCV003560065] Chr17:3514585 [GRCh38]
Chr17:3417879 [GRCh37]
Chr17:17p13.2		 benign|likely benign
NM_145068.4(TRPV3):c.1879G>A (p.Asp627Asn) single nucleotide variant not provided [RCV003702725] Chr17:3518782 [GRCh38]
Chr17:3422076 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1450C>T (p.Leu484Phe) single nucleotide variant not provided [RCV003700291] Chr17:3528078 [GRCh38]
Chr17:3431372 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.246C>T (p.Asp82=) single nucleotide variant not provided [RCV003724525] Chr17:3544644 [GRCh38]
Chr17:3447938 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1402-7C>G single nucleotide variant not provided [RCV003558873] Chr17:3528133 [GRCh38]
Chr17:3431427 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.364C>T (p.Arg122Cys) single nucleotide variant not provided [RCV003725311] Chr17:3543576 [GRCh38]
Chr17:3446870 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2279-19A>G single nucleotide variant not provided [RCV003819592] Chr17:3514030 [GRCh38]
Chr17:3417324 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1134C>T (p.Thr378=) single nucleotide variant not provided [RCV003735915] Chr17:3530135 [GRCh38]
Chr17:3433429 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1504-3T>C single nucleotide variant not provided [RCV003730854] Chr17:3526930 [GRCh38]
Chr17:3430224 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.293C>T (p.Ser98Phe) single nucleotide variant not provided [RCV003557224] Chr17:3544597 [GRCh38]
Chr17:3447891 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.928T>C (p.Phe310Leu) single nucleotide variant not provided [RCV003818483] Chr17:3532794 [GRCh38]
Chr17:3436088 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1188C>T (p.Asp396=) single nucleotide variant not provided [RCV003870278] Chr17:3530081 [GRCh38]
Chr17:3433375 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.979C>T (p.Arg327Trp) single nucleotide variant not provided [RCV003568077] Chr17:3532743 [GRCh38]
Chr17:3436037 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2258C>T (p.Pro753Leu) single nucleotide variant Inborn genetic diseases [RCV004374090]|not provided [RCV003733026] Chr17:3514613 [GRCh38]
Chr17:3417907 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.3-13.2(chr17:9474-6017500)x1 copy number loss not specified [RCV003987214] Chr17:9474..6017500 [GRCh37]
Chr17:17p13.3-13.2		 pathogenic
NM_145068.4(TRPV3):c.1242+1G>T single nucleotide variant not provided [RCV003721427] Chr17:3530026 [GRCh38]
Chr17:3433320 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.963C>T (p.Tyr321=) single nucleotide variant not provided [RCV003554384] Chr17:3532759 [GRCh38]
Chr17:3436053 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-11.2(chr17:525-21510992)x3 copy number gain not specified [RCV003987215] Chr17:525..21510992 [GRCh37]
Chr17:17p13.3-11.2		 pathogenic
NM_145068.4(TRPV3):c.644-1G>A single nucleotide variant not provided [RCV003679407] Chr17:3535714 [GRCh38]
Chr17:3439008 [GRCh37]
Chr17:17p13.2		 uncertain significance
GRCh37/hg19 17p13.2(chr17:3300933-3536977)x1 copy number loss not specified [RCV003987243] Chr17:3300933..3536977 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2259G>A (p.Pro753=) single nucleotide variant not provided [RCV003554703] Chr17:3514612 [GRCh38]
Chr17:3417906 [GRCh37]
Chr17:17p13.2		 likely benign
GRCh37/hg19 17p13.3-13.2(chr17:2674657-3484368)x3 copy number gain not specified [RCV003987223] Chr17:2674657..3484368 [GRCh37]
Chr17:17p13.3-13.2		 uncertain significance
NM_145068.4(TRPV3):c.1170C>T (p.Tyr390=) single nucleotide variant not provided [RCV003847593] Chr17:3530099 [GRCh38]
Chr17:3433393 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1190C>T (p.Thr397Ile) single nucleotide variant not provided [RCV003819485] Chr17:3530079 [GRCh38]
Chr17:3433373 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1456G>C (p.Gly486Arg) single nucleotide variant not provided [RCV003678151] Chr17:3528072 [GRCh38]
Chr17:3431366 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.639T>C (p.Tyr213=) single nucleotide variant TRPV3-related disorder [RCV003911786] Chr17:3542526 [GRCh38]
Chr17:3445820 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1653C>T (p.Leu551=) single nucleotide variant TRPV3-related disorder [RCV003931903] Chr17:3524288 [GRCh38]
Chr17:3427582 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.624C>T (p.Tyr208=) single nucleotide variant TRPV3-related disorder [RCV003909774] Chr17:3542541 [GRCh38]
Chr17:3445835 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.146G>A (p.Gly49Glu) single nucleotide variant Inborn genetic diseases [RCV004471347] Chr17:3545245 [GRCh38]
Chr17:3448539 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1528C>T (p.Pro510Ser) single nucleotide variant Inborn genetic diseases [RCV004471348] Chr17:3526903 [GRCh38]
Chr17:3430197 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1901A>G (p.Lys634Arg) single nucleotide variant Inborn genetic diseases [RCV004471351] Chr17:3518760 [GRCh38]
Chr17:3422054 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.217C>T (p.Arg73Trp) single nucleotide variant Inborn genetic diseases [RCV004471352] Chr17:3545174 [GRCh38]
Chr17:3448468 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.874C>T (p.Arg292Trp) single nucleotide variant Inborn genetic diseases [RCV004471359] Chr17:3532848 [GRCh38]
Chr17:3436142 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1372G>A (p.Val458Ile) single nucleotide variant Inborn genetic diseases [RCV004471346] Chr17:3528866 [GRCh38]
Chr17:3432160 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1578T>C (p.Phe526=) single nucleotide variant Inborn genetic diseases [RCV004471349] Chr17:3524363 [GRCh38]
Chr17:3427657 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.2348A>G (p.Glu783Gly) single nucleotide variant Inborn genetic diseases [RCV004471353] Chr17:3513942 [GRCh38]
Chr17:3417236 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.793C>A (p.Pro265Thr) single nucleotide variant Inborn genetic diseases [RCV004471358] Chr17:3532929 [GRCh38]
Chr17:3436223 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1181A>C (p.Asn394Thr) single nucleotide variant Inborn genetic diseases [RCV004471345] Chr17:3530088 [GRCh38]
Chr17:3433382 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1699C>T (p.Arg567Trp) single nucleotide variant Inborn genetic diseases [RCV004471350] Chr17:3524242 [GRCh38]
Chr17:3427536 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.259C>G (p.Gln87Glu) single nucleotide variant Inborn genetic diseases [RCV004471354] Chr17:3544631 [GRCh38]
Chr17:3447925 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.475A>G (p.Met159Val) single nucleotide variant Inborn genetic diseases [RCV004471355] Chr17:3542690 [GRCh38]
Chr17:3445984 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.49G>A (p.Ala17Thr) single nucleotide variant Inborn genetic diseases [RCV004471356] Chr17:3554802 [GRCh38]
Chr17:3458096 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1028C>T (p.Thr343Met) single nucleotide variant Inborn genetic diseases [RCV004471343] Chr17:3532694 [GRCh38]
Chr17:3435988 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1153G>A (p.Val385Met) single nucleotide variant Inborn genetic diseases [RCV004471344] Chr17:3530116 [GRCh38]
Chr17:3433410 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.653C>T (p.Ala218Val) single nucleotide variant Inborn genetic diseases [RCV004471357] Chr17:3535704 [GRCh38]
Chr17:3438998 [GRCh37]
Chr17:17p13.2		 uncertain significance
NC_000017.10:g.(?_422368)_(8285628_?)dup duplication not provided [RCV004581443] Chr17:422368..8285628 [GRCh37]
Chr17:17p13.3-13.1		 uncertain significance
NC_000017.10:g.(?_3419731)_(3424353_?)del deletion not provided [RCV004581453] Chr17:3419731..3424353 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.734C>G (p.Ala245Gly) single nucleotide variant Inborn genetic diseases [RCV004687745] Chr17:3535623 [GRCh38]
Chr17:3438917 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.92C>T (p.Pro31Leu) single nucleotide variant Inborn genetic diseases [RCV004680194] Chr17:3554759 [GRCh38]
Chr17:3458053 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.1169A>G (p.Tyr390Cys) single nucleotide variant not provided [RCV004698198] Chr17:3530100 [GRCh38]
Chr17:3433394 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2333C>A (p.Ala778Glu) single nucleotide variant Inborn genetic diseases [RCV004680193] Chr17:3513957 [GRCh38]
Chr17:3417251 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.2357C>G (p.Pro786Arg) single nucleotide variant Inborn genetic diseases [RCV004680195] Chr17:3513933 [GRCh38]
Chr17:3417227 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.971T>G (p.Ile324Ser) single nucleotide variant Inborn genetic diseases [RCV004680197] Chr17:3532751 [GRCh38]
Chr17:3436045 [GRCh37]
Chr17:17p13.2		 uncertain significance
NM_145068.4(TRPV3):c.312T>C (p.Ser104=) single nucleotide variant Inborn genetic diseases [RCV004680198] Chr17:3543628 [GRCh38]
Chr17:3446922 [GRCh37]
Chr17:17p13.2		 likely benign
NM_145068.4(TRPV3):c.1387C>G (p.Pro463Ala) single nucleotide variant Inborn genetic diseases [RCV004687746] Chr17:3528851 [GRCh38]
Chr17:3432145 [GRCh37]
Chr17:17p13.2		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:6677
Count of miRNA genes:1366
Interacting mature miRNAs:1791
Transcripts:ENST00000301365, ENST00000381913, ENST00000571005, ENST00000571139, ENST00000572519, ENST00000573539, ENST00000574773, ENST00000575865, ENST00000576742, ENST00000577016
Prediction methods:Microtar, Miranda, Pita, 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
407198356GWAS847332_Hcleft lip QTL GWAS847332 (human)0.000005cleft lip1735143593514360Human

Markers in Region
TRPV3__5144  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,416,424 - 3,417,305UniSTSGRCh37
Build 36173,363,174 - 3,364,055RGDNCBI36
Celera173,430,130 - 3,431,011RGD
HuRef173,307,967 - 3,308,848UniSTS
D10S16   No map positions available.
GDB:314949  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map7p15-p14UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map8q24.3UniSTS
GDB:434012  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map2q31.2-q33.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map5q21UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map9q13-q21UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q25.2UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map1p21.3-p13.1UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map8q24.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map16p13UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map10p11.1UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map7p13-p12UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map4q13UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map4p16UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic MapXp22.11UniSTS
Cytogenetic Map12q24UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map12q13.1-q13.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map6pter-p12.1UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map14q31UniSTS
GDB:313783  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map10q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map19p12UniSTS
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
G54306  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37173,429,972 - 3,430,075UniSTSGRCh37
Celera173,443,679 - 3,443,782UniSTS
Cytogenetic Map17p13.2UniSTS
HuRef173,321,539 - 3,321,642UniSTS
D7S2067E  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map6p21UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map7q11.2UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map6p21.1-p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map10p15-p14UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map5q33.3UniSTS
GDB:631813  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map11p12UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map5q11.2-q13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map3p21.33UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map19p13.3UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


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
renal system
reproductive system
respiratory system
sensory system
1204 2423 2787 2241 4922 1691 2295 4 594 1923 436 2249 7152 6420 52 3707 779 1706 1595 170

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_032144 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258205 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_145068 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC025125 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC027796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF514998 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ487035 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074032 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127726 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304768 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY118267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY118268 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC104868 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143295 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143299 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143330 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143333 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143334 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC143336 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX537539 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471108 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068261 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  EU295940 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000301365   ⟹   ENSP00000301365
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,513,190 - 3,557,805 (-)Ensembl
Ensembl Acc Id: ENST00000381913   ⟹   ENSP00000371338
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,510,502 - 3,535,677 (-)Ensembl
Ensembl Acc Id: ENST00000571005
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,526,873 - 3,530,257 (-)Ensembl
Ensembl Acc Id: ENST00000571139   ⟹   ENSP00000458187
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,513,821 - 3,557,767 (-)Ensembl
Ensembl Acc Id: ENST00000572519   ⟹   ENSP00000460215
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,514,066 - 3,557,805 (-)Ensembl
Ensembl Acc Id: ENST00000573539   ⟹   ENSP00000458239
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,513,821 - 3,557,767 (-)Ensembl
Ensembl Acc Id: ENST00000574773
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,552,211 - 3,557,806 (-)Ensembl
Ensembl Acc Id: ENST00000575865
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,527,697 - 3,530,112 (-)Ensembl
Ensembl Acc Id: ENST00000576742   ⟹   ENSP00000461518
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,510,502 - 3,557,812 (-)Ensembl
Ensembl Acc Id: ENST00000577016   ⟹   ENSP00000460856
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,513,190 - 3,528,988 (-)Ensembl
Ensembl Acc Id: ENST00000616411   ⟹   ENSP00000483947
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl173,510,503 - 3,546,715 (-)Ensembl
RefSeq Acc Id: NM_001258205   ⟹   NP_001245134
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,510,502 - 3,557,812 (-)NCBI
GRCh37173,413,796 - 3,461,289 (-)NCBI
HuRef173,305,340 - 3,352,994 (-)NCBI
CHM1_1173,424,206 - 3,472,113 (-)NCBI
T2T-CHM13v2.0173,399,413 - 3,446,868 (-)NCBI
Sequence:
RefSeq Acc Id: NM_145068   ⟹   NP_659505
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,510,502 - 3,557,812 (-)NCBI
GRCh37173,413,796 - 3,461,289 (-)NCBI
Build 36173,363,236 - 3,408,039 (-)NCBI Archive
HuRef173,305,340 - 3,352,994 (-)NCBI
CHM1_1173,424,206 - 3,472,113 (-)NCBI
T2T-CHM13v2.0173,399,413 - 3,446,868 (-)NCBI
Sequence:
RefSeq Acc Id: NP_659505   ⟸   NM_145068
- Peptide Label: isoform 2
- UniProtKB: Q8NET9 (UniProtKB/Swiss-Prot),   Q8NDW7 (UniProtKB/Swiss-Prot),   Q8NFH2 (UniProtKB/Swiss-Prot),   Q8NET8 (UniProtKB/Swiss-Prot),   Q2M3L1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245134   ⟸   NM_001258205
- Peptide Label: isoform 1
- UniProtKB: Q2M3L1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000458187   ⟸   ENST00000571139
Ensembl Acc Id: ENSP00000460215   ⟸   ENST00000572519
Ensembl Acc Id: ENSP00000458239   ⟸   ENST00000573539
Ensembl Acc Id: ENSP00000461518   ⟸   ENST00000576742
Ensembl Acc Id: ENSP00000460856   ⟸   ENST00000577016
Ensembl Acc Id: ENSP00000483947   ⟸   ENST00000616411
Ensembl Acc Id: ENSP00000301365   ⟸   ENST00000301365
Ensembl Acc Id: ENSP00000371338   ⟸   ENST00000381913
Protein Domains
Ion transport

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q8NET8-F1-model_v2 AlphaFold Q8NET8 1-790 view protein structure

Promoters
RGD ID:6794658
Promoter ID:HG_KWN:24696
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   Lymphoblastoid
Transcripts:UC002FVS.1
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,385,494 - 3,385,994 (-)MPROMDB
RGD ID:6794656
Promoter ID:HG_KWN:24697
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:ENST00000381913,   NM_145068,   UC002FVU.2
Position:
Human AssemblyChrPosition (strand)Source
Build 36173,407,871 - 3,408,942 (-)MPROMDB
RGD ID:7233347
Promoter ID:EPDNEW_H22419
Type:initiation region
Name:TRPV3_2
Description:transient receptor potential cation channel subfamily V member3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22420  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,535,610 - 3,535,670EPDNEW
RGD ID:7233351
Promoter ID:EPDNEW_H22420
Type:initiation region
Name:TRPV3_1
Description:transient receptor potential cation channel subfamily V member3
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H22419  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38173,557,807 - 3,557,867EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18084 AgrOrtholog
COSMIC TRPV3 COSMIC
Ensembl Genes ENSG00000167723 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000301365 ENTREZGENE
  ENST00000301365.8 UniProtKB/Swiss-Prot
  ENST00000381913.8 UniProtKB/TrEMBL
  ENST00000571139.5 UniProtKB/TrEMBL
  ENST00000572519.1 UniProtKB/Swiss-Prot
  ENST00000573539.5 UniProtKB/TrEMBL
  ENST00000576742 ENTREZGENE
  ENST00000576742.6 UniProtKB/Swiss-Prot
  ENST00000577016.5 UniProtKB/TrEMBL
  ENST00000616411.4 UniProtKB/TrEMBL
Gene3D-CATH 1.10.287.70 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  1.25.40.20 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000167723 GTEx
HGNC ID HGNC:18084 ENTREZGENE
Human Proteome Map TRPV3 Human Proteome Map
InterPro Ankyrin_rpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ankyrin_rpt-contain_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRPV1-4_channel UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:162514 UniProtKB/Swiss-Prot
NCBI Gene 162514 ENTREZGENE
OMIM 607066 OMIM
PANTHER PTHR10582 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR10582:SF6 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Ank UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ank_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Ion_trans UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA38481 PharmGKB
PRINTS TRPVRECEPTOR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE ANK_REP_REGION UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ANK_REPEAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART ANK UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF48403 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A087X170_HUMAN UniProtKB/TrEMBL
  B2KYM6_HUMAN UniProtKB/TrEMBL
  B7ZKP6_HUMAN UniProtKB/TrEMBL
  B7ZKP9_HUMAN UniProtKB/TrEMBL
  I3L0L5_HUMAN UniProtKB/TrEMBL
  I3L402_HUMAN UniProtKB/TrEMBL
  J3KPJ6_HUMAN UniProtKB/TrEMBL
  Q2M3L1 ENTREZGENE, UniProtKB/TrEMBL
  Q8NDW7 ENTREZGENE
  Q8NET8 ENTREZGENE
  Q8NET9 ENTREZGENE
  Q8NFH2 ENTREZGENE
  TRPV3_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary Q8NDW7 UniProtKB/Swiss-Prot
  Q8NET9 UniProtKB/Swiss-Prot
  Q8NFH2 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-02-02 TRPV3  transient receptor potential cation channel subfamily V member 3    transient receptor potential cation channel, subfamily V, member 3  Symbol and/or name change 5135510 APPROVED