TMC8 Chromosome 17

Transmembrane channel like 8
42 variants 42 Health Risk

Upload your DNA to see your personal genotypes for variants in TMC8.

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 8 predicted transmembrane domains and 3 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
ENSG00000167895
Associated Conditions (6)
Epidermodysplasia verruciformis
susceptibility to
2
TMC8-related disorder
Inborn genetic diseases
1
Key Variants
RS1002758195
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 2
Health Risk
RS139756868
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, TMC8-related disorder
Health Risk
RS139972217
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS150546646
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS151076155
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, susceptibility to, 1
Health Risk
RS201477740
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, TMC8-related disorder
Health Risk
RS367807381
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
Health Risk
RS373918852
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS374017520
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS537981704
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS545052827
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
RS779111855
Conflicting classifications of pathogenicity
Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
Health Risk
All Variants (42)
RSID Category Clinical Significance Conditions
RS1002758195 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 2
RS139756868 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, TMC8-related disorder
RS139972217 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS150546646 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS151076155 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, susceptibility to, 1
RS201477740 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, TMC8-related disorder
RS367807381 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS373918852 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS374017520 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS537981704 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS545052827 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS779111855 Health Risk Conflicting classifications of pathogenicity Epidermodysplasia verruciformis, Inborn genetic diseases, Epidermodysplasia verruciformis
RS1462849002 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2075127396 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145664236 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510812563 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS368631059 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS377668069 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761256523 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761524773 Health Risk Likely pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS121908330 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 2
RS1233952795 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1568011732 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1598895511 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS1598923748 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2075270806 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2145662712 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510755990 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510788970 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510788991 Health Risk Pathogenic Epidermodysplasia verruciformis, susceptibility to, 2
RS2510806153 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS2510810419 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS750132459 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS761550940 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS763948485 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS764753165 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS769699571 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS771079712 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS903461633 Health Risk Pathogenic Epidermodysplasia verruciformis, Epidermodysplasia verruciformis
RS369371040 Health Risk Pathogenic/Likely pathogenic Epidermodysplasia verruciformis, susceptibility to, 2
RS1567799639 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to, 2
RS2510780271 Health Risk risk factor Epidermodysplasia verruciformis, susceptibility to, 2
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