Variant (rsID / SNP)

rs322937

rs322937 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV3. Location: chromosome 17, position 3,446,885. Clinical significance in the table: Benign.

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Reference-table entries

TRPV3Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 17:3446885
Cytoband: 17p13.2
HGVS: NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly)
Allele change: Missense_R117G

Associated conditions / phenotypes

Isolated focal non-epidermolytic palmoplantar keratoderma|Olmsted syndrome 1

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.