Variant (rsID / SNP)

rs116535534

rs116535534 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV3. Location: chromosome 17, position 3,433,458. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRPV3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 17:3433458
Cytoband: 17p13.2
HGVS: NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp)
Allele change: Missense_R369W

Associated conditions / phenotypes

Isolated focal non-epidermolytic palmoplantar keratoderma

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.