Variant (rsID / SNP)

rs9912448

rs9912448 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV3, SPATA22. Location: chromosome 17, position 3,415,118. 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: 17:3415118
Cytoband: 17p13.2
HGVS: NM_145068.4(TRPV3):c.*2093C>T
Allele change: Silent

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.