TMC6 (transmembrane channel like 6) - Rat Genome Database

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Gene: TMC6 (transmembrane channel like 6) Homo sapiens
Analyze
Symbol: TMC6
Name: transmembrane channel like 6
RGD ID: 1351267
HGNC Page HGNC
Description: Predicted to have mechanosensitive ion channel activity. Predicted to be involved in neutrophil degranulation. Localizes to Golgi apparatus; endoplasmic reticulum; and nuclear membrane. Implicated in epidermodysplasia verruciformis.
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: epidermodysplasia verruciformis 1; epidermodysplasia verruciformis protein 1; EV1; EVER1; EVIN1; expressed in activated T/LAK lymphocytes; FLJ17776; LAK-4P; lnc; protein LAK-4; TNRC6C antisense RNA 1; TNRC6C-AS1; transmembrane channel-like 6; transmembrane channel-like protein 6
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Related Pseudogenes: LOC100420252  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1778,107,397 - 78,132,407 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1778,107,398 - 78,111,799 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1778,110,458 - 78,132,407 (-)EnsemblGRCh38hg38GRCh38
GRCh381778,107,397 - 78,132,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371776,103,478 - 76,128,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361773,620,594 - 73,640,083 (-)NCBINCBI36hg18NCBI36
Build 341773,620,593 - 73,640,083NCBI
Celera1772,704,979 - 72,724,886 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1771,533,000 - 71,552,763 (-)NCBIHuRef
CHM1_11776,173,673 - 76,193,061 (-)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Molecular Function

References

Additional References at PubMed
PMID:10084299   PMID:10844558   PMID:12426567   PMID:12477932   PMID:12812529   PMID:12906855   PMID:14702039   PMID:15042430   PMID:15489334   PMID:16487602   PMID:17008061   PMID:17081983  
PMID:18158319   PMID:19706093   PMID:20458337   PMID:21387292   PMID:21873635   PMID:22761942   PMID:23400010   PMID:23534907   PMID:23535066   PMID:24705354   PMID:25378492   PMID:26047157  
PMID:26126409   PMID:26227733   PMID:27097911   PMID:27899077   PMID:28298427   PMID:28514442   PMID:28611215   PMID:29893424   PMID:30021884   PMID:30068544   PMID:30918008   PMID:30938030  
PMID:32296183   PMID:32814053   PMID:32917726  


Genomics

Comparative Map Data
TMC6
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38.p13 Ensembl1778,107,397 - 78,132,407 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1778,107,398 - 78,111,799 (-)EnsemblGRCh38hg38GRCh38
GRCh38.p13 Ensembl1778,110,458 - 78,132,407 (-)EnsemblGRCh38hg38GRCh38
GRCh381778,107,397 - 78,132,427 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh371776,103,478 - 76,128,508 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361773,620,594 - 73,640,083 (-)NCBINCBI36hg18NCBI36
Build 341773,620,593 - 73,640,083NCBI
Celera1772,704,979 - 72,724,886 (-)NCBI
Cytogenetic Map17q25.3NCBI
HuRef1771,533,000 - 71,552,763 (-)NCBIHuRef
CHM1_11776,173,673 - 76,193,061 (-)NCBICHM1_1
Tmc6
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3911117,656,811 - 117,673,019 (-)NCBIGRCm39mm39
GRCm39 Ensembl11117,656,814 - 117,673,024 (-)Ensembl
GRCm3811117,765,985 - 117,782,193 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl11117,765,988 - 117,782,198 (-)EnsemblGRCm38mm10GRCm38
MGSCv3711117,627,299 - 117,641,997 (-)NCBIGRCm37mm9NCBIm37
MGSCv3611117,582,078 - 117,596,711 (-)NCBImm8
Celera11129,509,789 - 129,524,625 (-)NCBICelera
Cytogenetic Map11E2NCBI
cM Map1182.96NCBI
Tmc6
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.210102,982,059 - 102,999,509 (-)NCBI
Rnor_6.010106,766,857 - 106,783,004 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_5.010106,405,613 - 106,420,792 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
Celera10101,542,906 - 101,560,725 (-)NCBICelera
Cytogenetic Map10q32.2NCBI
Tmc6
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049555064,424,023 - 4,435,400 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049555064,422,658 - 4,435,671 (+)NCBIChiLan1.0ChiLan1.0
TMC6
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11777,737,078 - 77,757,964 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1777,742,467 - 77,757,482 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01772,183,937 - 72,205,550 (-)NCBIMhudiblu_PPA_v0panPan3
TMC6
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.193,002,689 - 3,018,059 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl92,805,651 - 3,016,309 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha93,682,788 - 3,700,802 (+)NCBI
ROS_Cfam_1.093,677,324 - 3,695,401 (+)NCBI
UMICH_Zoey_3.193,700,384 - 3,718,362 (+)NCBI
UNSW_CanFamBas_1.093,824,645 - 3,842,709 (+)NCBI
UU_Cfam_GSD_1.093,906,112 - 3,924,188 (+)NCBI
Tmc6
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_0244056023,652,272 - 3,666,870 (+)NCBI
SpeTri2.0NW_0049365942,743,466 - 2,759,482 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
TMC6
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl123,825,440 - 3,844,624 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1123,825,374 - 3,848,367 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
TMC6
(Chlorocebus sabaeus - African green monkey)
Vervet AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11643,585,975 - 43,605,452 (+)NCBI
ChlSab1.1 Ensembl1643,589,522 - 43,605,220 (+)Ensembl
Tmc6
(Heterocephalus glaber - naked mole-rat)
Molerat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla 1.0NW_0046248017,643,139 - 7,655,895 (-)NCBI

Position Markers
D17S1802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371740,353,486 - 40,353,713UniSTSGRCh37
Build 361737,607,012 - 37,607,239RGDNCBI36
Celera1737,007,749 - 37,007,976RGD
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map17q25.3UniSTS
HuRef1736,118,521 - 36,118,748UniSTS
Marshfield Genetic Map1764.16UniSTS
Marshfield Genetic Map1764.16RGD
Genethon Genetic Map1764.9UniSTS
deCODE Assembly Map1770.79UniSTS
D17S939  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map17q25UniSTS
Cytogenetic Map17q25.3UniSTS
Marshfield Genetic Map17105.68RGD
Marshfield Genetic Map17105.68UniSTS
Genethon Genetic Map17106.9UniSTS
GeneMap99-GB4 RH Map17494.51UniSTS
NCBI RH Map17796.1UniSTS
D17S1839  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371773,801,863 - 73,802,108UniSTSGRCh37
Build 361771,313,458 - 71,313,703RGDNCBI36
Celera1770,391,913 - 70,392,158RGD
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25.1UniSTS
HuRef1769,227,323 - 69,227,568UniSTS
Marshfield Genetic Map17102.46RGD
Marshfield Genetic Map17102.46UniSTS
Genethon Genetic Map17103.7UniSTS
TNG Radiation Hybrid Map1733729.0UniSTS
deCODE Assembly Map17114.52UniSTS
Stanford-G3 RH Map173272.0UniSTS
NCBI RH Map17783.3UniSTS
GeneMap99-G3 RH Map173773.0UniSTS
D17S802  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh372241,668,750 - 241,669,019UniSTSGRCh37
GRCh371776,234,610 - 76,234,787UniSTSGRCh37
Build 362241,317,423 - 241,317,692RGDNCBI36
Celera1772,830,638 - 72,830,815UniSTS
Celera2235,341,570 - 235,341,839RGD
Celera1627,352,670 - 27,353,078UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map17q25UniSTS
HuRef2233,428,287 - 233,428,556UniSTS
HuRef1627,131,412 - 27,131,820UniSTS
HuRef1771,658,741 - 71,658,912UniSTS
Marshfield Genetic Map17106.8UniSTS
Marshfield Genetic Map17106.8RGD
Genethon Genetic Map17108.2UniSTS
deCODE Assembly Map17120.84UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
RH80030  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map17q21.2-q21.3UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map12q15-q21UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2p22.2UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map1q25.3UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map11q22.2-q22.3UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map10q26.13-q26.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map2q32.2UniSTS

miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:10021
Count of miRNA genes:1257
Interacting mature miRNAs:1663
Transcripts:ENST00000306591, ENST00000322914, ENST00000322933, ENST00000392467, ENST00000585849, ENST00000586126, ENST00000586271, ENST00000586697, ENST00000587480, ENST00000588087, ENST00000588792, ENST00000589271, ENST00000589553, ENST00000589933, ENST00000590162, ENST00000590494, ENST00000590602, ENST00000590934, ENST00000591436, ENST00000591594, ENST00000591756, ENST00000592063, ENST00000592076, ENST00000592594, ENST00000593044
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

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

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


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system adipose tissue appendage entire extraembryonic component
High
Medium 1098 1358 692 220 1874 70 2714 419 1596 132 738 1346 161 1180 1293 2
Low 1331 1629 1025 399 75 391 1626 1758 2102 279 708 257 11 24 1489 2
Below cutoff 6 2 8 3 1 4 11 16 30 7 11 9 1 6 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_007879 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001127198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001321185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374594 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001374596 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001375354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168288 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168289 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168290 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_168291 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524255 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524256 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524257 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011524258 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450556 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024450557 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_001752420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_243632 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB002405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC021593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK021738 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK074065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK092916 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094898 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK096076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK123771 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK127699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK303584 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310734 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY057379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY099356 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY099357 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY129024 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY236496 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC007766 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC018346 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC023597 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC035648 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC041417 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471099 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ104440 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY057592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HY100488 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000306591   ⟹   ENSP00000306405
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,112,925 - 78,128,630 (-)Ensembl
RefSeq Acc Id: ENST00000322914   ⟹   ENSP00000313408
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,112,921 - 78,132,407 (-)Ensembl
RefSeq Acc Id: ENST00000392467   ⟹   ENSP00000376260
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,112,921 - 78,127,020 (-)Ensembl
RefSeq Acc Id: ENST00000585849
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,122,560 - 78,124,350 (-)Ensembl
RefSeq Acc Id: ENST00000586126   ⟹   ENSP00000466159
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,125,754 - 78,131,397 (-)Ensembl
RefSeq Acc Id: ENST00000586271
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,124,179 - 78,125,889 (-)Ensembl
RefSeq Acc Id: ENST00000586697
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,126,065 - 78,128,755 (-)Ensembl
RefSeq Acc Id: ENST00000587480
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,132,150 - 78,132,402 (-)Ensembl
RefSeq Acc Id: ENST00000588087
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,120,177 - 78,128,730 (-)Ensembl
RefSeq Acc Id: ENST00000588792
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,125,923 - 78,128,755 (-)Ensembl
RefSeq Acc Id: ENST00000589217
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,107,398 - 78,111,799 (-)Ensembl
RefSeq Acc Id: ENST00000589271   ⟹   ENSP00000468255
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,124,558 - 78,128,758 (-)Ensembl
RefSeq Acc Id: ENST00000589553   ⟹   ENSP00000465359
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,120,177 - 78,128,782 (-)Ensembl
RefSeq Acc Id: ENST00000589933
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,117,316 - 78,118,172 (-)Ensembl
RefSeq Acc Id: ENST00000590162
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,126,196 - 78,126,997 (-)Ensembl
RefSeq Acc Id: ENST00000590494
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,112,922 - 78,113,959 (-)Ensembl
RefSeq Acc Id: ENST00000590602   ⟹   ENSP00000465261
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,110,458 - 78,128,697 (-)Ensembl
RefSeq Acc Id: ENST00000590934
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,118,971 - 78,120,719 (-)Ensembl
RefSeq Acc Id: ENST00000591436   ⟹   ENSP00000464853
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,113,148 - 78,122,748 (-)Ensembl
RefSeq Acc Id: ENST00000591594
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,125,080 - 78,126,832 (-)Ensembl
RefSeq Acc Id: ENST00000591756
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,119,062 - 78,120,796 (-)Ensembl
RefSeq Acc Id: ENST00000592063   ⟹   ENSP00000466885
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,125,233 - 78,128,751 (-)Ensembl
RefSeq Acc Id: ENST00000592076
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,112,919 - 78,123,123 (-)Ensembl
RefSeq Acc Id: ENST00000592594   ⟹   ENSP00000467016
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,125,726 - 78,130,683 (-)Ensembl
RefSeq Acc Id: ENST00000592939
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,107,398 - 78,110,335 (-)Ensembl
RefSeq Acc Id: ENST00000593044
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1778,113,076 - 78,128,772 (-)Ensembl
RefSeq Acc Id: NM_001127198   ⟹   NP_001120670
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,107,397 - 78,128,755 (-)NCBI
GRCh371776,108,999 - 76,128,488 (-)ENTREZGENE
HuRef1771,533,000 - 71,552,763 (-)ENTREZGENE
CHM1_11776,173,673 - 76,189,432 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001321185   ⟹   NP_001308114
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,128,794 (-)NCBI
CHM1_11776,173,673 - 76,189,432 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001374593   ⟹   NP_001361522
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,108,775 - 78,128,755 (-)NCBI
RefSeq Acc Id: NM_001374594   ⟹   NP_001361523
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,108,775 - 78,128,755 (-)NCBI
RefSeq Acc Id: NM_001374596   ⟹   NP_001361525
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,108,775 - 78,128,755 (-)NCBI
RefSeq Acc Id: NM_001375353   ⟹   NP_001362282
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,919 - 78,128,755 (-)NCBI
RefSeq Acc Id: NM_001375354   ⟹   NP_001362283
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,919 - 78,128,755 (-)NCBI
RefSeq Acc Id: NM_007267   ⟹   NP_009198
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,132,427 (-)NCBI
GRCh371776,108,999 - 76,128,488 (-)ENTREZGENE
Build 361773,620,594 - 73,640,083 (-)NCBI Archive
HuRef1771,533,000 - 71,552,763 (-)ENTREZGENE
CHM1_11776,173,673 - 76,193,061 (-)NCBI
Sequence:
RefSeq Acc Id: NR_168288
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,107,397 - 78,128,755 (-)NCBI
RefSeq Acc Id: NR_168289
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,107,397 - 78,128,755 (-)NCBI
RefSeq Acc Id: NR_168290
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,107,397 - 78,128,755 (-)NCBI
RefSeq Acc Id: NR_168291
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,107,397 - 78,128,755 (-)NCBI
RefSeq Acc Id: XM_011524255   ⟹   XP_011522557
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,127,020 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524256   ⟹   XP_011522558
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,127,020 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524257   ⟹   XP_011522559
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,125,223 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011524258   ⟹   XP_011522560
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,127,020 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450556   ⟹   XP_024306324
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,131,285 (-)NCBI
Sequence:
RefSeq Acc Id: XM_024450557   ⟹   XP_024306325
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,128,686 (-)NCBI
Sequence:
RefSeq Acc Id: XR_001752420
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,108,775 - 78,127,020 (-)NCBI
Sequence:
RefSeq Acc Id: XR_243632
RefSeq Status:
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,112,918 - 78,127,020 (-)NCBI
GRCh371776,108,999 - 76,128,488 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_001120670 (Get FASTA)   NCBI Sequence Viewer  
  NP_001308114 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361522 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361523 (Get FASTA)   NCBI Sequence Viewer  
  NP_001361525 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362282 (Get FASTA)   NCBI Sequence Viewer  
  NP_001362283 (Get FASTA)   NCBI Sequence Viewer  
  NP_009198 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522557 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522558 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522559 (Get FASTA)   NCBI Sequence Viewer  
  XP_011522560 (Get FASTA)   NCBI Sequence Viewer  
  XP_024306324 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH07766 (Get FASTA)   NCBI Sequence Viewer  
  AAH18346 (Get FASTA)   NCBI Sequence Viewer  
  AAH23597 (Get FASTA)   NCBI Sequence Viewer  
  AAH35648 (Get FASTA)   NCBI Sequence Viewer  
  AAL25836 (Get FASTA)   NCBI Sequence Viewer  
  AAM44452 (Get FASTA)   NCBI Sequence Viewer  
  AAM44453 (Get FASTA)   NCBI Sequence Viewer  
  AAM98767 (Get FASTA)   NCBI Sequence Viewer  
  AAP69874 (Get FASTA)   NCBI Sequence Viewer  
  AAZ20186 (Get FASTA)   NCBI Sequence Viewer  
  BAA24179 (Get FASTA)   NCBI Sequence Viewer  
  BAB13884 (Get FASTA)   NCBI Sequence Viewer  
  BAB84891 (Get FASTA)   NCBI Sequence Viewer  
  BAG53207 (Get FASTA)   NCBI Sequence Viewer  
  BAG64265 (Get FASTA)   NCBI Sequence Viewer  
  BAG64602 (Get FASTA)   NCBI Sequence Viewer  
  EAW89487 (Get FASTA)   NCBI Sequence Viewer  
  EAW89488 (Get FASTA)   NCBI Sequence Viewer  
  EAW89489 (Get FASTA)   NCBI Sequence Viewer  
  EAW89490 (Get FASTA)   NCBI Sequence Viewer  
  EAW89491 (Get FASTA)   NCBI Sequence Viewer  
  EAW89492 (Get FASTA)   NCBI Sequence Viewer  
  EAW89493 (Get FASTA)   NCBI Sequence Viewer  
  Q7Z403 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_009198   ⟸   NM_007267
- Peptide Label: isoform 1
- UniProtKB: Q7Z403 (UniProtKB/Swiss-Prot),   A0A024R8V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001120670   ⟸   NM_001127198
- Peptide Label: isoform 1
- UniProtKB: Q7Z403 (UniProtKB/Swiss-Prot),   A0A024R8V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522558   ⟸   XM_011524256
- Peptide Label: isoform X2
- Sequence:
RefSeq Acc Id: XP_011522560   ⟸   XM_011524258
- Peptide Label: isoform X6
- Sequence:
RefSeq Acc Id: XP_011522557   ⟸   XM_011524255
- Peptide Label: isoform X1
- UniProtKB: Q7Z403 (UniProtKB/Swiss-Prot),   A0A024R8V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011522559   ⟸   XM_011524257
- Peptide Label: isoform X5
- Sequence:
RefSeq Acc Id: NP_001308114   ⟸   NM_001321185
- Peptide Label: isoform 1
- UniProtKB: Q7Z403 (UniProtKB/Swiss-Prot),   A0A024R8V2 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024306324   ⟸   XM_024450556
- Peptide Label: isoform X1
- Sequence:
RefSeq Acc Id: XP_024306325   ⟸   XM_024450557
- Peptide Label: isoform X4
- Sequence:
RefSeq Acc Id: NP_001361523   ⟸   NM_001374594
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001361522   ⟸   NM_001374593
- Peptide Label: isoform 2
RefSeq Acc Id: NP_001362282   ⟸   NM_001375353
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001362283   ⟸   NM_001375354
- Peptide Label: isoform 1
RefSeq Acc Id: NP_001361525   ⟸   NM_001374596
- Peptide Label: isoform 1
RefSeq Acc Id: ENSP00000306405   ⟸   ENST00000306591
RefSeq Acc Id: ENSP00000466159   ⟸   ENST00000586126
RefSeq Acc Id: ENSP00000313408   ⟸   ENST00000322914
RefSeq Acc Id: ENSP00000468255   ⟸   ENST00000589271
RefSeq Acc Id: ENSP00000465359   ⟸   ENST00000589553
RefSeq Acc Id: ENSP00000376260   ⟸   ENST00000392467
RefSeq Acc Id: ENSP00000465261   ⟸   ENST00000590602
RefSeq Acc Id: ENSP00000464853   ⟸   ENST00000591436
RefSeq Acc Id: ENSP00000466885   ⟸   ENST00000592063
RefSeq Acc Id: ENSP00000467016   ⟸   ENST00000592594
Protein Domains
TMC

Promoters
RGD ID:6811372
Promoter ID:HG_ACW:36562
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:TMC6.VFAPR07
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,621,326 - 73,621,826 (-)MPROMDB
RGD ID:6794024
Promoter ID:HG_KWN:27232
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:ENST00000392466
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,628,431 - 73,629,422 (-)MPROMDB
RGD ID:6794619
Promoter ID:HG_KWN:27233
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002JUI.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,629,931 - 73,630,732 (-)MPROMDB
RGD ID:6794626
Promoter ID:HG_KWN:27234
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562,   Lymphoblastoid
Transcripts:UC002JUM.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,633,949 - 73,634,449 (-)MPROMDB
RGD ID:6794623
Promoter ID:HG_KWN:27235
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:UC002JUJ.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,634,476 - 73,635,272 (-)MPROMDB
RGD ID:6794618
Promoter ID:HG_KWN:27236
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:ENST00000322933,   ENST00000392467,   UC002JUN.2,   UC002JUO.2,   UC010DHF.1,   UC010DHG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,636,056 - 73,637,442 (-)MPROMDB
RGD ID:6794620
Promoter ID:HG_KWN:27238
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   K562,   Lymphoblastoid
Transcripts:NM_007267
Position:
Human AssemblyChrPosition (strand)Source
Build 361773,639,914 - 73,640,414 (-)MPROMDB
RGD ID:7236489
Promoter ID:EPDNEW_H23991
Type:initiation region
Name:TMC6_1
Description:transmembrane channel like 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23993  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,128,755 - 78,128,815EPDNEW
RGD ID:7236493
Promoter ID:EPDNEW_H23993
Type:initiation region
Name:TMC6_2
Description:transmembrane channel like 6
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H23991  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381778,132,417 - 78,132,477EPDNEW

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_007267.7(TMC6):c.1471C>T (p.Arg491Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV000543137] Chr17:78121077 [GRCh38]
Chr17:76117158 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.2355-4G>A single nucleotide variant Epidermodysplasia verruciformis [RCV000557373] Chr17:78113215 [GRCh38]
Chr17:76109296 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.892-2A>T single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000005017] Chr17:78124181 [GRCh38]
Chr17:76120262 [GRCh37]
Chr17:17q25.3
pathogenic|likely pathogenic|risk factor
NM_007267.7(TMC6):c.704A>G (p.Lys235Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV000549871] Chr17:78124711 [GRCh38]
Chr17:76120792 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.890C>T (p.Ala297Val) single nucleotide variant Epidermodysplasia verruciformis [RCV000548513] Chr17:78124525 [GRCh38]
Chr17:76120606 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1139C>T (p.Ala380Val) single nucleotide variant Epidermodysplasia verruciformis [RCV000555648] Chr17:78122693 [GRCh38]
Chr17:76118774 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1961C>T (p.Thr654Met) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000558164] Chr17:78117862 [GRCh38]
Chr17:76113943 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.181+6C>T single nucleotide variant Epidermodysplasia verruciformis [RCV000543484] Chr17:78126518 [GRCh38]
Chr17:76122599 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.280C>T (p.Arg94Ter) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000005014] Chr17:78125876 [GRCh38]
Chr17:76121957 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor
NM_007267.7(TMC6):c.1726G>T (p.Glu576Ter) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000005015] Chr17:78119382 [GRCh38]
Chr17:76115463 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor
NM_007267.7(TMC6):c.744C>A (p.Tyr248Ter) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000005016] Chr17:78124671 [GRCh38]
Chr17:76120752 [GRCh37]
Chr17:17q25.3
pathogenic|risk factor
GRCh38/hg38 17q25.3(chr17:78092236-83086677)x3 copy number gain See cases [RCV000050685] Chr17:78092236..83086677 [GRCh38]
Chr17:76088317..81044553 [GRCh37]
Chr17:73599912..78637842 [NCBI36]
Chr17:17q25.3
pathogenic
GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3 copy number gain See cases [RCV000052486] Chr17:69209079..83086677 [GRCh38]
Chr17:67205220..81044553 [GRCh37]
Chr17:64716815..78637842 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
GRCh38/hg38 17q23.2-25.3(chr17:36449220-83086677)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052483]|See cases [RCV000052483] Chr17:36449220..83086677 [GRCh38]
Chr17:58617905..81044553 [GRCh37]
Chr17:55972687..78637842 [NCBI36]
Chr17:17q23.2-25.3
pathogenic
NM_001127198.5(TMC6):c.1334C>T (p.Ala445Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001348436] Chr17:78121605 [GRCh38]
Chr17:76117686 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1175C>T (p.Thr392Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001302688] Chr17:78122657 [GRCh38]
Chr17:76118738 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh38/hg38 17q25.3(chr17:78092356-78444214)x1 copy number loss See cases [RCV000139522] Chr17:78092356..78444214 [GRCh38]
Chr17:76088437..76440296 [GRCh37]
Chr17:73600032..73951891 [NCBI36]
Chr17:17q25.3
likely benign
GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3 copy number gain See cases [RCV000143342] Chr17:69916435..83102552 [GRCh38]
Chr17:67912576..81048189 [GRCh37]
Chr17:65424171..78653717 [NCBI36]
Chr17:17q24.3-25.3
pathogenic
NM_007267.7(TMC6):c.2354+10C>T single nucleotide variant Epidermodysplasia verruciformis [RCV000547237] Chr17:78113538 [GRCh38]
Chr17:76109619 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.2354G>C (p.Arg785Thr) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000768338]|Epidermodysplasia verruciformis [RCV001211639] Chr17:78113548 [GRCh38]
Chr17:76109629 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1505C>T (p.Pro502Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000553305] Chr17:78121043 [GRCh38]
Chr17:76117124 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.1228-8G>A single nucleotide variant Epidermodysplasia verruciformis [RCV000554651] Chr17:78121719 [GRCh38]
Chr17:76117800 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.838G>A (p.Ala280Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV000559990] Chr17:78124577 [GRCh38]
Chr17:76120658 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.1276G>A (p.Gly426Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV000532937] Chr17:78121663 [GRCh38]
Chr17:76117744 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.-75+600C>A single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000768340] Chr17:78131741 [GRCh38]
Chr17:76127822 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1672G>A (p.Val558Ile) single nucleotide variant not provided [RCV000415861] Chr17:78120696 [GRCh38]
Chr17:76116777 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1200G>A (p.Gln400=) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000539336] Chr17:78122632 [GRCh38]
Chr17:76118713 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000447539] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
GRCh37/hg19 17q24.2-25.3(chr17:64241326-81041938)x3 copy number gain See cases [RCV000447577] Chr17:64241326..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3 copy number gain See cases [RCV000447823] Chr17:42580684..81085615 [GRCh37]
Chr17:17q21.31-25.3
pathogenic
NM_001127198.5(TMC6):c.373T>C (p.Trp125Arg) single nucleotide variant not specified [RCV000454504] Chr17:78125783 [GRCh38]
Chr17:76121864 [GRCh37]
Chr17:17q25.3
benign
NM_001127198.5(TMC6):c.2021+11C>T single nucleotide variant not specified [RCV000454972] Chr17:78117791 [GRCh38]
Chr17:76113872 [GRCh37]
Chr17:17q25.3
benign
NM_152468.5(TMC8):c.1107G>A (p.Glu369=) single nucleotide variant not specified [RCV000455156] Chr17:78134989 [GRCh38]
Chr17:76131070 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.57-1G>A single nucleotide variant not provided [RCV000484081] Chr17:78126649 [GRCh38]
Chr17:76122730 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_001127198.5(TMC6):c.457C>T (p.Leu153Phe) single nucleotide variant not specified [RCV000455621] Chr17:78125237 [GRCh38]
Chr17:76121318 [GRCh37]
Chr17:17q25.3
benign
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
NM_007267.7(TMC6):c.1459C>T (p.Pro487Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV000698995] Chr17:78121089 [GRCh38]
Chr17:76117170 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3 copy number gain See cases [RCV000510919] Chr17:73951701..81041938 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_007267.7(TMC6):c.116A>G (p.Gln39Arg) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000524639] Chr17:78126589 [GRCh38]
Chr17:76122670 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.712G>A (p.Gly238Arg) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000630745] Chr17:78124703 [GRCh38]
Chr17:76120784 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.633+8C>T single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000768339] Chr17:78124881 [GRCh38]
Chr17:76120962 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.554C>T (p.Pro185Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000630746] Chr17:78124968 [GRCh38]
Chr17:76121049 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.475G>A (p.Ala159Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV000630758] Chr17:78125219 [GRCh38]
Chr17:76121300 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1098C>T (p.Phe366=) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000630755] Chr17:78122734 [GRCh38]
Chr17:76118815 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1344C>T (p.Cys448=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630766] Chr17:78121595 [GRCh38]
Chr17:76117676 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.858C>T (p.Pro286=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630769] Chr17:78124557 [GRCh38]
Chr17:76120638 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.1325dup (p.Thr444fs) duplication EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000630740] Chr17:78121613..78121614 [GRCh38]
Chr17:76117694..76117695 [GRCh37]
Chr17:17q25.3
pathogenic
NM_007267.7(TMC6):c.859G>A (p.Val287Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV000533755] Chr17:78124556 [GRCh38]
Chr17:76120637 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.2011G>A (p.Ala671Thr) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000536464] Chr17:78117812 [GRCh38]
Chr17:76113893 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1214G>A (p.Arg405His) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV001281050]|Epidermodysplasia verruciformis [RCV000630742] Chr17:78122618 [GRCh38]
Chr17:76118699 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_007267.7(TMC6):c.156G>A (p.Leu52=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630762] Chr17:78126549 [GRCh38]
Chr17:76122630 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.-75+718G>A single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000630748] Chr17:78131623 [GRCh38]
Chr17:76127704 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.634-4G>A single nucleotide variant not provided [RCV000630757] Chr17:78124785 [GRCh38]
Chr17:76120866 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1536-4G>A single nucleotide variant Epidermodysplasia verruciformis [RCV000630759] Chr17:78120836 [GRCh38]
Chr17:76116917 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.1652G>A (p.Arg551Gln) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000630751] Chr17:78120716 [GRCh38]
Chr17:76116797 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+612G>C single nucleotide variant Epidermodysplasia verruciformis [RCV000630753] Chr17:78131729 [GRCh38]
Chr17:76127810 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.-75+353G>C single nucleotide variant Epidermodysplasia verruciformis [RCV000630741] Chr17:78131988 [GRCh38]
Chr17:76128069 [GRCh37]
Chr17:17q25.3
likely benign|uncertain significance
NM_007267.7(TMC6):c.2033C>T (p.Ser678Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000630739] Chr17:78117633 [GRCh38]
Chr17:76113714 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.610C>T (p.Arg204Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV000630773] Chr17:78124912 [GRCh38]
Chr17:76120993 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.393C>T (p.Tyr131=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630754] Chr17:78125763 [GRCh38]
Chr17:76121844 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.847G>A (p.Gly283Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV000630772] Chr17:78124568 [GRCh38]
Chr17:76120649 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1748G>A (p.Arg583Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV000533291] Chr17:78119360 [GRCh38]
Chr17:76115441 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.315G>A (p.Thr105=) single nucleotide variant Epidermodysplasia verruciformis [RCV000535700] Chr17:78125841 [GRCh38]
Chr17:76121922 [GRCh37]
Chr17:17q25.3
likely benign
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
NM_007267.7(TMC6):c.-75+720C>G single nucleotide variant Epidermodysplasia verruciformis [RCV000630760] Chr17:78131621 [GRCh38]
Chr17:76127702 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1842C>T (p.Pro614=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630756] Chr17:78119016 [GRCh38]
Chr17:76115097 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.1482C>T (p.Ala494=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630761] Chr17:78121066 [GRCh38]
Chr17:76117147 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.369C>T (p.Ser123=) single nucleotide variant Epidermodysplasia verruciformis [RCV000630764] Chr17:78125787 [GRCh38]
Chr17:76121868 [GRCh37]
Chr17:17q25.3
likely benign
GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3 copy number gain See cases [RCV000512573] Chr17:67002415..81041938 [GRCh37]
Chr17:17q24.2-25.3
pathogenic
NM_007267.7(TMC6):c.352G>C (p.Gly118Arg) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000700571] Chr17:78125804 [GRCh38]
Chr17:76121885 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3 copy number gain not provided [RCV000683952] Chr17:63689671..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_007267.7(TMC6):c.73T>C (p.Tyr25His) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV001281051]|Epidermodysplasia verruciformis [RCV000685104] Chr17:78126632 [GRCh38]
Chr17:76122713 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1292C>T (p.Ala431Val) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000693645] Chr17:78121647 [GRCh38]
Chr17:76117728 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1219C>T (p.Arg407Trp) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000689084] Chr17:78122613 [GRCh38]
Chr17:76118694 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.413C>T (p.Thr138Met) single nucleotide variant Epidermodysplasia verruciformis [RCV000685505] Chr17:78125743 [GRCh38]
Chr17:76121824 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1811+1G>A single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000703978] Chr17:78119296 [GRCh38]
Chr17:76115377 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_007267.7(TMC6):c.748_1082+56del deletion EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000706700] Chr17:78123933..78124667 [GRCh38]
Chr17:76120014..76120748 [GRCh37]
Chr17:17q25.3
pathogenic
NM_007267.7(TMC6):c.2239C>T (p.Arg747Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV000695226] Chr17:78117307 [GRCh38]
Chr17:76113388 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+620C>G single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000704565] Chr17:78131721 [GRCh38]
Chr17:76127802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+743GCA[4] microsatellite Epidermodysplasia verruciformis [RCV000707332] Chr17:78131589..78131590 [GRCh38]
Chr17:76127670..76127671 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1976_1984dup (p.Pro659_Phe661dup) duplication EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000688396] Chr17:78117838..78117839 [GRCh38]
Chr17:76113919..76113920 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.377C>T (p.Pro126Leu) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000695926] Chr17:78125779 [GRCh38]
Chr17:76121860 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.656C>T (p.Ala219Val) single nucleotide variant Epidermodysplasia verruciformis [RCV000696151] Chr17:78124759 [GRCh38]
Chr17:76120840 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+424C>T single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000698121] Chr17:78131917 [GRCh38]
Chr17:76127998 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.55G>T (p.Gly19Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV000691469] Chr17:78126778 [GRCh38]
Chr17:76122859 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.440G>A (p.Ser147Asn) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000694417] Chr17:78125254 [GRCh38]
Chr17:76121335 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.333_335del (p.Arg111del) deletion Epidermodysplasia verruciformis [RCV000692098] Chr17:78125821..78125823 [GRCh38]
Chr17:76121902..76121904 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.578C>T (p.Pro193Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000697075] Chr17:78124944 [GRCh38]
Chr17:76121025 [GRCh37]
Chr17:17q25.3
uncertain significance
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
NM_001127198.5(TMC6):c.1013A>G (p.Asn338Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV001057457] Chr17:78124058 [GRCh38]
Chr17:76120139 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1509A>G (p.Val503=) single nucleotide variant Epidermodysplasia verruciformis [RCV000905527] Chr17:78121039 [GRCh38]
Chr17:76117120 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.2384C>T (p.Pro795Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000973808] Chr17:78113182 [GRCh38]
Chr17:76109263 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.288C>T (p.Ala96=) single nucleotide variant Epidermodysplasia verruciformis [RCV000923158] Chr17:78125868 [GRCh38]
Chr17:76121949 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.954G>A (p.Pro318=) single nucleotide variant Epidermodysplasia verruciformis [RCV000898818] Chr17:78124117 [GRCh38]
Chr17:76120198 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1596G>A (p.Arg532=) single nucleotide variant Epidermodysplasia verruciformis [RCV000943251] Chr17:78120772 [GRCh38]
Chr17:76116853 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1237G>C (p.Ala413Pro) single nucleotide variant Epidermodysplasia verruciformis [RCV000970670] Chr17:78121702 [GRCh38]
Chr17:76117783 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.150G>A (p.Leu50=) single nucleotide variant not provided [RCV000926555] Chr17:78126555 [GRCh38]
Chr17:76122636 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1347C>T (p.Ala449=) single nucleotide variant Epidermodysplasia verruciformis [RCV000882413] Chr17:78121592 [GRCh38]
Chr17:76117673 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.986C>T (p.Thr329Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV000902902] Chr17:78124085 [GRCh38]
Chr17:76120166 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1176G>A (p.Thr392=) single nucleotide variant not provided [RCV000915364] Chr17:78122656 [GRCh38]
Chr17:76118737 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.909C>T (p.Thr303=) single nucleotide variant not provided [RCV000944648] Chr17:78124162 [GRCh38]
Chr17:76120243 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.780C>T (p.Ala260=) single nucleotide variant not provided [RCV000902264] Chr17:78124635 [GRCh38]
Chr17:76120716 [GRCh37]
Chr17:17q25.3
likely benign
NM_001127198.5(TMC6):c.967del (p.Leu323fs) deletion Epidermodysplasia verruciformis [RCV001037260] Chr17:78124104 [GRCh38]
Chr17:76120185 [GRCh37]
Chr17:17q25.3
pathogenic
NM_152468.5(TMC8):c.106G>A (p.Val36Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001052208] Chr17:78131694 [GRCh38]
Chr17:76127775 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.370G>A (p.Ala124Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001065435] Chr17:78125786 [GRCh38]
Chr17:76121867 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1772G>A (p.Arg591Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV001034849] Chr17:78119336 [GRCh38]
Chr17:76115417 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2282G>T (p.Gly761Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001048352] Chr17:78113620 [GRCh38]
Chr17:76109701 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.893G>A (p.Gly298Asp) single nucleotide variant Epidermodysplasia verruciformis [RCV001036020] Chr17:78124178 [GRCh38]
Chr17:76120259 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.482G>A (p.Arg161Gln) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000808285] Chr17:78125212 [GRCh38]
Chr17:76121293 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.48G>A (p.Gly16=) single nucleotide variant Epidermodysplasia verruciformis [RCV000923456] Chr17:78126785 [GRCh38]
Chr17:76122866 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.666C>T (p.Ser222=) single nucleotide variant Epidermodysplasia verruciformis [RCV000895389] Chr17:78124749 [GRCh38]
Chr17:76120830 [GRCh37]
Chr17:17q25.3
benign
NM_152468.5(TMC8):c.298+10G>C single nucleotide variant Epidermodysplasia verruciformis [RCV000898817] Chr17:78132040 [GRCh38]
Chr17:76128121 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.228G>A (p.Thr76=) single nucleotide variant Epidermodysplasia verruciformis [RCV000918387] Chr17:78126320 [GRCh38]
Chr17:76122401 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.936C>T (p.Asn312=) single nucleotide variant not provided [RCV000975751] Chr17:78124135 [GRCh38]
Chr17:76120216 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.414G>A (p.Thr138=) single nucleotide variant not provided [RCV000894941] Chr17:78125742 [GRCh38]
Chr17:76121823 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1521C>T (p.Tyr507=) single nucleotide variant Epidermodysplasia verruciformis [RCV000976102] Chr17:78121027 [GRCh38]
Chr17:76117108 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.2355-8T>C single nucleotide variant not provided [RCV000976361] Chr17:78113219 [GRCh38]
Chr17:76109300 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.588C>T (p.Gly196=) single nucleotide variant not provided [RCV000943727] Chr17:78124934 [GRCh38]
Chr17:76121015 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1146C>T (p.Thr382=) single nucleotide variant Epidermodysplasia verruciformis [RCV000899425] Chr17:78122686 [GRCh38]
Chr17:76118767 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.513C>T (p.Ser171=) single nucleotide variant not provided [RCV000930005] Chr17:78125181 [GRCh38]
Chr17:76121262 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.294C>T (p.Ile98=) single nucleotide variant not provided [RCV000939901] Chr17:78125862 [GRCh38]
Chr17:76121943 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.2355-7C>T single nucleotide variant not provided [RCV000945111] Chr17:78113218 [GRCh38]
Chr17:76109299 [GRCh37]
Chr17:17q25.3
likely benign
NM_152468.5(TMC8):c.226C>T (p.Arg76Cys) single nucleotide variant not provided [RCV000897882] Chr17:78131958 [GRCh38]
Chr17:76128039 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.2199-4G>A single nucleotide variant Epidermodysplasia verruciformis [RCV000942376] Chr17:78117351 [GRCh38]
Chr17:76113432 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1441C>A (p.Leu481Ile) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000796449] Chr17:78121107 [GRCh38]
Chr17:76117188 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.969G>A (p.Leu323=) single nucleotide variant Epidermodysplasia verruciformis [RCV000892569] Chr17:78124102 [GRCh38]
Chr17:76120183 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.364C>T (p.Arg122Cys) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000821176] Chr17:78125792 [GRCh38]
Chr17:76121873 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.94G>A (p.Asp32Asn) single nucleotide variant Epidermodysplasia verruciformis [RCV000823883] Chr17:78126611 [GRCh38]
Chr17:76122692 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2108C>T (p.Ala703Val) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000816364] Chr17:78117558 [GRCh38]
Chr17:76113639 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.739T>C (p.Ser247Pro) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000819730] Chr17:78124676 [GRCh38]
Chr17:76120757 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2280G>C (p.Glu760Asp) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000794994] Chr17:78113622 [GRCh38]
Chr17:76109703 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1589G>C (p.Gly530Ala) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000820166] Chr17:78120779 [GRCh38]
Chr17:76116860 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.317T>C (p.Val106Ala) single nucleotide variant Epidermodysplasia verruciformis [RCV000813308] Chr17:78125839 [GRCh38]
Chr17:76121920 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1147G>A (p.Val383Ile) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000792516] Chr17:78122685 [GRCh38]
Chr17:76118766 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2383C>T (p.Pro795Ser) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000815949] Chr17:78113183 [GRCh38]
Chr17:76109264 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2407del (p.Gln803fs) deletion EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000816888] Chr17:78113159 [GRCh38]
Chr17:76109240 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1298T>C (p.Val433Ala) single nucleotide variant Epidermodysplasia verruciformis [RCV000799983] Chr17:78121641 [GRCh38]
Chr17:76117722 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1513G>C (p.Glu505Gln) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000822920] Chr17:78121035 [GRCh38]
Chr17:76117116 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2390C>T (p.Ala797Val) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000804109] Chr17:78113176 [GRCh38]
Chr17:76109257 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.892-2A>G single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000820680] Chr17:78124181 [GRCh38]
Chr17:76120262 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_007267.7(TMC6):c.129G>C (p.Gln43His) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000805071] Chr17:78126576 [GRCh38]
Chr17:76122657 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+434G>A single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000809384] Chr17:78131907 [GRCh38]
Chr17:76127988 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001127198.5(TMC6):c.613C>A (p.Leu205Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV001056772] Chr17:78124909 [GRCh38]
Chr17:76120990 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1493C>T (p.Pro498Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001057458] Chr17:78121055 [GRCh38]
Chr17:76117136 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+341G>A single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000794030] Chr17:78132000 [GRCh38]
Chr17:76128081 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.-75+728A>G single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000821557] Chr17:78131613 [GRCh38]
Chr17:76127694 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1972T>G (p.Phe658Val) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000812608] Chr17:78117851 [GRCh38]
Chr17:76113932 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.386G>A (p.Arg129His) single nucleotide variant Epidermodysplasia verruciformis [RCV000815659] Chr17:78125770 [GRCh38]
Chr17:76121851 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.706C>T (p.Arg236Cys) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000794448] Chr17:78124709 [GRCh38]
Chr17:76120790 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1729A>G (p.Lys577Glu) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000810952] Chr17:78119379 [GRCh38]
Chr17:76115460 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.2263G>A (p.Glu755Lys) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000811677] Chr17:78117283 [GRCh38]
Chr17:76113364 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1213C>T (p.Arg405Cys) single nucleotide variant EPIDERMODYSPLASIA VERRUCIFORMIS, SUSCEPTIBILITY TO, 1 [RCV000817551] Chr17:78122619 [GRCh38]
Chr17:76118700 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3 copy number gain not provided [RCV000849900] Chr17:62778720..81041938 [GRCh37]
Chr17:17q24.1-25.3
pathogenic
NM_152468.5(TMC8):c.232C>T (p.Arg78Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001060819] Chr17:78131964 [GRCh38]
Chr17:76128045 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.137A>G (p.Lys46Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV001223962] Chr17:78131725 [GRCh38]
Chr17:76127806 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1761T>G (p.Phe587Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001204976] Chr17:78119347 [GRCh38]
Chr17:76115428 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.62G>A (p.Gly21Asp) single nucleotide variant Epidermodysplasia verruciformis [RCV001208846] Chr17:78126643 [GRCh38]
Chr17:76122724 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1522G>C (p.Val508Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001237499] Chr17:78121026 [GRCh38]
Chr17:76117107 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.352G>A (p.Gly118Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV001237584] Chr17:78125804 [GRCh38]
Chr17:76121885 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.512G>A (p.Ser171Asn) single nucleotide variant Epidermodysplasia verruciformis [RCV001209485] Chr17:78125182 [GRCh38]
Chr17:76121263 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1870G>A (p.Val624Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV001217874] Chr17:78118988 [GRCh38]
Chr17:76115069 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.157C>G (p.Arg53Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001214624] Chr17:78131889 [GRCh38]
Chr17:76127970 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1383+1G>A single nucleotide variant Epidermodysplasia verruciformis [RCV001238118] Chr17:78121555 [GRCh38]
Chr17:76117636 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_152468.5(TMC8):c.250C>G (p.Leu84Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001203953] Chr17:78131982 [GRCh38]
Chr17:76128063 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1702G>C (p.Glu568Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV001210413] Chr17:78120666 [GRCh38]
Chr17:76116747 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.580G>A (p.Gly194Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV001238525] Chr17:78124942 [GRCh38]
Chr17:76121023 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.431-10_431-5del microsatellite Epidermodysplasia verruciformis [RCV001202034] Chr17:78125268..78125273 [GRCh38]
Chr17:76121349..76121354 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.306C>A (p.Tyr102Ter) single nucleotide variant Epidermodysplasia verruciformis [RCV001201839] Chr17:78125850 [GRCh38]
Chr17:76121931 [GRCh37]
Chr17:17q25.3
pathogenic
NM_001127198.5(TMC6):c.781C>T (p.Leu261Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001230576] Chr17:78124634 [GRCh38]
Chr17:76120715 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2380G>C (p.Ala794Pro) single nucleotide variant Epidermodysplasia verruciformis [RCV001053545] Chr17:78113186 [GRCh38]
Chr17:76109267 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.340C>T (p.Arg114Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001228283] Chr17:78125816 [GRCh38]
Chr17:76121897 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.1332C>T (p.Thr444=) single nucleotide variant Epidermodysplasia verruciformis [RCV000974706] Chr17:78121607 [GRCh38]
Chr17:76117688 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.57-4G>A single nucleotide variant Epidermodysplasia verruciformis [RCV000983793] Chr17:78126652 [GRCh38]
Chr17:76122733 [GRCh37]
Chr17:17q25.3
likely benign
NM_152468.5(TMC8):c.279G>A (p.Gly93=) single nucleotide variant Epidermodysplasia verruciformis [RCV000974681] Chr17:78132011 [GRCh38]
Chr17:76128092 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.686C>T (p.Pro229Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV000910130] Chr17:78124729 [GRCh38]
Chr17:76120810 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.272-7T>C single nucleotide variant not provided [RCV000928754] Chr17:78125891 [GRCh38]
Chr17:76121972 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.657G>A (p.Ala219=) single nucleotide variant not provided [RCV000915315] Chr17:78124758 [GRCh38]
Chr17:76120839 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.687G>A (p.Pro229=) single nucleotide variant Epidermodysplasia verruciformis [RCV000909423] Chr17:78124728 [GRCh38]
Chr17:76120809 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1992C>T (p.Ala664=) single nucleotide variant Epidermodysplasia verruciformis [RCV000970774] Chr17:78117831 [GRCh38]
Chr17:76113912 [GRCh37]
Chr17:17q25.3
likely benign
NM_152468.5(TMC8):c.118C>G (p.Pro40Ala) single nucleotide variant Epidermodysplasia verruciformis [RCV000932934] Chr17:78131706 [GRCh38]
Chr17:76127787 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1592G>A (p.Arg531His) single nucleotide variant not provided [RCV000932965] Chr17:78120776 [GRCh38]
Chr17:76116857 [GRCh37]
Chr17:17q25.3
benign
NM_007267.7(TMC6):c.634-5C>T single nucleotide variant Epidermodysplasia verruciformis [RCV000933451] Chr17:78124786 [GRCh38]
Chr17:76120867 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1071C>T (p.Thr357=) single nucleotide variant Epidermodysplasia verruciformis [RCV000894492] Chr17:78124000 [GRCh38]
Chr17:76120081 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.135G>A (p.Thr45=) single nucleotide variant not provided [RCV000908290] Chr17:78126570 [GRCh38]
Chr17:76122651 [GRCh37]
Chr17:17q25.3
likely benign
NM_001127198.5(TMC6):c.176T>C (p.Val59Ala) single nucleotide variant Epidermodysplasia verruciformis [RCV001225777] Chr17:78126529 [GRCh38]
Chr17:76122610 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1893C>A (p.Ser631Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV001235743] Chr17:78117930 [GRCh38]
Chr17:76114011 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.208C>T (p.Pro70Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV001247356] Chr17:78126340 [GRCh38]
Chr17:76122421 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.409C>T (p.Pro137Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV001239150] Chr17:78125747 [GRCh38]
Chr17:76121828 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2250C>G (p.Ile750Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001244911] Chr17:78117296 [GRCh38]
Chr17:76113377 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1591C>T (p.Arg531Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV001202150] Chr17:78120777 [GRCh38]
Chr17:76116858 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.150-3del deletion Epidermodysplasia verruciformis [RCV001219868] Chr17:78131878 [GRCh38]
Chr17:76127959 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.11C>T (p.Pro4Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001071175] Chr17:78131599 [GRCh38]
Chr17:76127680 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1603G>A (p.Val535Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV001236875] Chr17:78120765 [GRCh38]
Chr17:76116846 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.953C>T (p.Pro318Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001219987] Chr17:78124118 [GRCh38]
Chr17:76120199 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.430+5G>C single nucleotide variant Epidermodysplasia verruciformis [RCV001243619] Chr17:78125721 [GRCh38]
Chr17:76121802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.10C>A (p.Pro4Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001216879] Chr17:78126823 [GRCh38]
Chr17:76122904 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.941C>T (p.Thr314Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001217337] Chr17:78124130 [GRCh38]
Chr17:76120211 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1240G>A (p.Glu414Lys) single nucleotide variant Epidermodysplasia verruciformis [RCV001241031] Chr17:78121699 [GRCh38]
Chr17:76117780 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.823G>T (p.Val275Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001209531] Chr17:78124592 [GRCh38]
Chr17:76120673 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.617G>T (p.Arg206Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV001243820] Chr17:78124905 [GRCh38]
Chr17:76120986 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.635C>T (p.Ala212Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001065312] Chr17:78124780 [GRCh38]
Chr17:76120861 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.481C>T (p.Arg161Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001209973] Chr17:78125213 [GRCh38]
Chr17:76121294 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.947A>T (p.Asn316Ile) single nucleotide variant Epidermodysplasia verruciformis [RCV001221857] Chr17:78124124 [GRCh38]
Chr17:76120205 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_007267.7(TMC6):c.75T>C (p.Tyr25=) single nucleotide variant Epidermodysplasia verruciformis [RCV000935749] Chr17:78126630 [GRCh38]
Chr17:76122711 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1137C>T (p.His379=) single nucleotide variant Epidermodysplasia verruciformis [RCV000913778] Chr17:78122695 [GRCh38]
Chr17:76118776 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.1917G>A (p.Pro639=) single nucleotide variant Epidermodysplasia verruciformis [RCV000933981] Chr17:78117906 [GRCh38]
Chr17:76113987 [GRCh37]
Chr17:17q25.3
likely benign
NM_007267.7(TMC6):c.351C>T (p.Leu117=) single nucleotide variant not provided [RCV000934167] Chr17:78125805 [GRCh38]
Chr17:76121886 [GRCh37]
Chr17:17q25.3
likely benign
NM_001127198.5(TMC6):c.2022-1G>C single nucleotide variant Epidermodysplasia verruciformis [RCV001056974] Chr17:78117645 [GRCh38]
Chr17:76113726 [GRCh37]
Chr17:17q25.3
likely pathogenic
NM_001127198.5(TMC6):c.919T>C (p.Tyr307His) single nucleotide variant Epidermodysplasia verruciformis [RCV001061604] Chr17:78124152 [GRCh38]
Chr17:76120233 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2240G>A (p.Arg747His) single nucleotide variant Epidermodysplasia verruciformis [RCV001062333] Chr17:78117306 [GRCh38]
Chr17:76113387 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1918C>T (p.Arg640Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV001068498] Chr17:78117905 [GRCh38]
Chr17:76113986 [GRCh37]
Chr17:17q25.3
uncertain significance
GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3 copy number gain not provided [RCV001006919] Chr17:73261871..78608763 [GRCh37]
Chr17:17q25.1-25.3
pathogenic
NM_001127198.5(TMC6):c.227C>T (p.Thr76Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001066163] Chr17:78126321 [GRCh38]
Chr17:76122402 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2325C>G (p.Tyr775Ter) single nucleotide variant Epidermodysplasia verruciformis [RCV001066512] Chr17:78113577 [GRCh38]
Chr17:76109658 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.991A>G (p.Arg331Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001235755] Chr17:78124080 [GRCh38]
Chr17:76120161 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.922G>A (p.Gly308Ser) single nucleotide variant Epidermodysplasia verruciformis [RCV001062334] Chr17:78124149 [GRCh38]
Chr17:76120230 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.316G>A (p.Val106Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001203892] Chr17:78125840 [GRCh38]
Chr17:76121921 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.134C>T (p.Thr45Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001207688] Chr17:78126571 [GRCh38]
Chr17:76122652 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1754C>T (p.Pro585Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001042045] Chr17:78119354 [GRCh38]
Chr17:76115435 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2246T>C (p.Val749Ala) single nucleotide variant Epidermodysplasia verruciformis [RCV001042654] Chr17:78117300 [GRCh38]
Chr17:76113381 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.998G>T (p.Gly333Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001051238] Chr17:78124073 [GRCh38]
Chr17:76120154 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.668C>T (p.Ala223Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001217952] Chr17:78124747 [GRCh38]
Chr17:76120828 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1193G>A (p.Arg398His) single nucleotide variant Epidermodysplasia verruciformis [RCV001051565] Chr17:78122639 [GRCh38]
Chr17:76118720 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1856T>A (p.Ile619Asn) single nucleotide variant Epidermodysplasia verruciformis [RCV001216684] Chr17:78119002 [GRCh38]
Chr17:76115083 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1111C>T (p.Arg371Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001035626] Chr17:78122721 [GRCh38]
Chr17:76118802 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.67A>G (p.Ser23Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001236185] Chr17:78126638 [GRCh38]
Chr17:76122719 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.274C>T (p.Arg92Cys) single nucleotide variant Epidermodysplasia verruciformis [RCV001206350] Chr17:78125882 [GRCh38]
Chr17:76121963 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2378C>T (p.Ala793Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001217497] Chr17:78113188 [GRCh38]
Chr17:76109269 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1261C>A (p.Pro421Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001208140] Chr17:78121678 [GRCh38]
Chr17:76117759 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1484C>G (p.Ala495Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001248050] Chr17:78121064 [GRCh38]
Chr17:76117145 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1651C>T (p.Arg551Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001229229] Chr17:78120717 [GRCh38]
Chr17:76116798 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.611G>A (p.Arg204Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV001247014] Chr17:78124911 [GRCh38]
Chr17:76120992 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.326G>A (p.Arg109Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV001210864] Chr17:78125830 [GRCh38]
Chr17:76121911 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.193C>T (p.Arg65Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001213038] Chr17:78131925 [GRCh38]
Chr17:76128006 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1483G>A (p.Ala495Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001038998] Chr17:78121065 [GRCh38]
Chr17:76117146 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.224G>A (p.Ser75Asn) single nucleotide variant Epidermodysplasia verruciformis [RCV001230979] Chr17:78126324 [GRCh38]
Chr17:76122405 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2255T>C (p.Leu752Pro) single nucleotide variant Epidermodysplasia verruciformis [RCV001216101] Chr17:78117291 [GRCh38]
Chr17:76113372 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1283T>C (p.Leu428Pro) single nucleotide variant Epidermodysplasia verruciformis [RCV001063841] Chr17:78121656 [GRCh38]
Chr17:76117737 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1822C>T (p.Leu608Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001233723] Chr17:78119036 [GRCh38]
Chr17:76115117 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.319C>T (p.Arg107Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001233036] Chr17:78132379 [GRCh38]
Chr17:76128460 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.194G>T (p.Arg65Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001307963] Chr17:78131926 [GRCh38]
Chr17:76128007 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2387C>T (p.Pro796Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001304694] Chr17:78113179 [GRCh38]
Chr17:76109260 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.31C>G (p.Arg11Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001342037] Chr17:78131619 [GRCh38]
Chr17:76127700 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.692G>A (p.Arg231His) single nucleotide variant Epidermodysplasia verruciformis [RCV001320113] Chr17:78124723 [GRCh38]
Chr17:76120804 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.341G>A (p.Arg114Gln) single nucleotide variant Epidermodysplasia verruciformis [RCV001296037] Chr17:78125815 [GRCh38]
Chr17:76121896 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2269A>T (p.Ile757Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001299191] Chr17:78117277 [GRCh38]
Chr17:76113358 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.311G>A (p.Arg104His) single nucleotide variant Epidermodysplasia verruciformis [RCV001307997] Chr17:78125845 [GRCh38]
Chr17:76121926 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.186T>G (p.Ser62Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV001307379] Chr17:78126362 [GRCh38]
Chr17:76122443 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2230C>T (p.Arg744Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001342785] Chr17:78117316 [GRCh38]
Chr17:76113397 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2244G>T (p.Lys748Asn) single nucleotide variant Epidermodysplasia verruciformis [RCV001339017] Chr17:78117302 [GRCh38]
Chr17:76113383 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1852A>T (p.Ile618Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001315895] Chr17:78119006 [GRCh38]
Chr17:76115087 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1771C>T (p.Arg591Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001349055] Chr17:78119337 [GRCh38]
Chr17:76115418 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.44C>T (p.Pro15Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001297024] Chr17:78126789 [GRCh38]
Chr17:76122870 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1993G>A (p.Ala665Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001326444] Chr17:78117830 [GRCh38]
Chr17:76113911 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1333G>A (p.Ala445Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001306364] Chr17:78121606 [GRCh38]
Chr17:76117687 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.748C>T (p.Leu250Phe) single nucleotide variant Epidermodysplasia verruciformis [RCV001338487] Chr17:78124667 [GRCh38]
Chr17:76120748 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2269A>G (p.Ile757Val) single nucleotide variant Epidermodysplasia verruciformis [RCV001320026] Chr17:78117277 [GRCh38]
Chr17:76113358 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.365G>A (p.Arg122His) single nucleotide variant Epidermodysplasia verruciformis [RCV001297153] Chr17:78125791 [GRCh38]
Chr17:76121872 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_152468.5(TMC8):c.157C>T (p.Arg53Trp) single nucleotide variant Epidermodysplasia verruciformis [RCV001321886] Chr17:78131889 [GRCh38]
Chr17:76127970 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1716-8G>A single nucleotide variant Epidermodysplasia verruciformis [RCV001347215] Chr17:78119400 [GRCh38]
Chr17:76115481 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1106G>C (p.Ser369Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001345167] Chr17:78122726 [GRCh38]
Chr17:76118807 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1819G>A (p.Val607Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001314070] Chr17:78119039 [GRCh38]
Chr17:76115120 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2182G>A (p.Val728Met) single nucleotide variant Epidermodysplasia verruciformis [RCV001322249] Chr17:78117484 [GRCh38]
Chr17:76113565 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.17C>G (p.Ala6Gly) single nucleotide variant Epidermodysplasia verruciformis [RCV001327813] Chr17:78126816 [GRCh38]
Chr17:76122897 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.758A>G (p.Lys253Arg) single nucleotide variant Epidermodysplasia verruciformis [RCV001339315] Chr17:78124657 [GRCh38]
Chr17:76120738 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1383+5G>A single nucleotide variant Epidermodysplasia verruciformis [RCV001299513] Chr17:78121551 [GRCh38]
Chr17:76117632 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1442T>C (p.Leu481Pro) single nucleotide variant Epidermodysplasia verruciformis [RCV001351484] Chr17:78121106 [GRCh38]
Chr17:76117187 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.52C>A (p.Gln18Lys) single nucleotide variant Epidermodysplasia verruciformis [RCV001309281] Chr17:78126781 [GRCh38]
Chr17:76122862 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2355-1G>C single nucleotide variant Epidermodysplasia verruciformis [RCV001343330] Chr17:78113212 [GRCh38]
Chr17:76109293 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.2162A>C (p.Asn721Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001317880] Chr17:78117504 [GRCh38]
Chr17:76113585 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1297G>T (p.Val433Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001340230] Chr17:78121642 [GRCh38]
Chr17:76117723 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1753C>A (p.Pro585Thr) single nucleotide variant Epidermodysplasia verruciformis [RCV001340741] Chr17:78119355 [GRCh38]
Chr17:76115436 [GRCh37]
Chr17:17q25.3
uncertain significance
NM_001127198.5(TMC6):c.1829C>T (p.Ser610Leu) single nucleotide variant Epidermodysplasia verruciformis [RCV001300451] Chr17:78119029 [GRCh38]
Chr17:76115110 [GRCh37]
Chr17:17q25.3
uncertain significance

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:18021 AgrOrtholog
COSMIC TMC6 COSMIC
Ensembl Genes ENSG00000141524 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENSG00000204282 Ensembl
Ensembl Protein ENSP00000306405 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000313408 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000376260 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000464853 UniProtKB/Swiss-Prot
  ENSP00000465261 ENTREZGENE, UniProtKB/Swiss-Prot
  ENSP00000465359 UniProtKB/Swiss-Prot
  ENSP00000466159 UniProtKB/TrEMBL
  ENSP00000466885 UniProtKB/TrEMBL
  ENSP00000467016 UniProtKB/TrEMBL
  ENSP00000468255 UniProtKB/TrEMBL
Ensembl Transcript ENST00000306591 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000322914 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000392467 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000586126 UniProtKB/TrEMBL
  ENST00000589271 UniProtKB/TrEMBL
  ENST00000589553 UniProtKB/Swiss-Prot
  ENST00000590602 ENTREZGENE, UniProtKB/Swiss-Prot
  ENST00000591436 UniProtKB/Swiss-Prot
  ENST00000592063 UniProtKB/TrEMBL
  ENST00000592594 UniProtKB/TrEMBL
  ENST00000593044 ENTREZGENE
GTEx ENSG00000141524 GTEx
  ENSG00000204282 GTEx
HGNC ID HGNC:18021 ENTREZGENE
Human Proteome Map TMC6 Human Proteome Map
InterPro TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TMC_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11322 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 11322 ENTREZGENE
OMIM 226400 OMIM
  605828 OMIM
PANTHER PTHR23302 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam TMC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134949466 PharmGKB
UniProt A0A024R8V2 ENTREZGENE, UniProtKB/TrEMBL
  K7ELP1_HUMAN UniProtKB/TrEMBL
  K7ENC4_HUMAN UniProtKB/TrEMBL
  K7ENM6_HUMAN UniProtKB/TrEMBL
  K7ERH0_HUMAN UniProtKB/TrEMBL
  Q7L2M4_HUMAN UniProtKB/TrEMBL
  Q7Z403 ENTREZGENE
  Q96I77_HUMAN UniProtKB/TrEMBL
  TMC6_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary O43284 UniProtKB/Swiss-Prot
  Q45VJ2 UniProtKB/Swiss-Prot
  Q8IU98 UniProtKB/Swiss-Prot
  Q8IUI7 UniProtKB/Swiss-Prot
  Q8IWU8 UniProtKB/Swiss-Prot
  Q8TEQ7 UniProtKB/Swiss-Prot
  Q9HAG5 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2020-05-07 TMC6  transmembrane channel like 6  TNRC6C-AS1  TNRC6C antisense RNA 1  Data Merged 737654 PROVISIONAL
2015-12-08 TMC6  transmembrane channel like 6  TMC6  transmembrane channel-like 6  Symbol and/or name change 5135510 APPROVED
2011-08-17 TMC6  transmembrane channel-like 6  TMC6  transmembrane channel-like 6  Symbol and/or name change 5135510 APPROVED