TMC6 Chromosome 17

Transmembrane channel like 6
37 variants 37 Health Risk

Upload your DNA to see your personal genotypes for variants in TMC6.

What This Gene Does
Epidermodysplasia verruciformis (EV) is an autosomal recessive dermatosis characterized by abnormal susceptibility to human papillomaviruses (HPVs) and a high rate of progression to squamous cell carcinoma on sun-exposed skin. EV is caused by mutations in either of two adjacent genes located on chromosome 17q25.3. Both of these genes encode integral membrane proteins that localize to the endoplasmic reticulum and are predicted to form transmembrane channels. This gene encodes a transmembrane channel-like protein with 10 transmembrane domains and 2 leucine zipper motifs. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
Transmembrane channel like family
Locus Type
gene with protein product
Location
17q25.3
Ensembl
ENSG00000141524
Associated Conditions (5)
Epidermodysplasia verruciformis
Inborn genetic diseases
susceptibility to
1
TMC6-related disorder
Key Variants
RS1036125960
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS112743475
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS140852551
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS143662903
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS149023121
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS199724291
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
Health Risk
RS200760468
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS369450669
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS555453763
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, TMC6-related disorder
Health Risk
RS750556964
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS954564790
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS1567989416
Likely pathogenic
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
Health Risk
All Variants (37)
RSID Category Clinical Significance Conditions
RS1036125960 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS112743475 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS140852551 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS143662903 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS149023121 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS199724291 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS200760468 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS369450669 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS555453763 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, TMC6-related disorder
RS750556964 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS954564790 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS1567989416 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS202217062 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2074414994 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS754288317 Health Risk Likely pathogenic —
RS121908327 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
RS121908329 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
RS1296234074 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1392702424 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1458008918 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1468619952 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1555655146 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1567995497 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1567997496 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
RS2074170793 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2074729420 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145350631 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510469062 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510516321 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510624241 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS371786754 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS749657465 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS758514260 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS769471844 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 1
RS776505795 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS776860184 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS121908328 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to, 1
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