Variant (rsID / SNP)

rs112802399

rs112802399 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TMC8. Location: chromosome 17, position 76,130,987. Clinical significance in the table: Benign.

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Reference-table entries

TMC8Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:76130987
Cytoband: 17q25.3
HGVS: NM_152468.5(TMC8):c.1024G>T (p.Gly342Trp)
Allele change: Missense_G342W

Associated conditions / phenotypes

Epidermodysplasia verruciformis

Public references

dbSNP
ClinVar
Ensembl
gnomAD

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.