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Variant (rsID / SNP)

rs201927283

TRPV4

rs201927283 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,252,321. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

TRPV4Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
12:110252321
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.281C>T (p.Ser94Leu)
Allele change
Missense_S94L

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2C

Public references

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