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Variant (rsID / SNP)

rs397514494

TRPV4

rs397514494 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,246,103. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

TRPV4Pathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
12:110246103
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.557G>A (p.Arg186Gln)
Allele change
Missense_R186Q

Associated conditions / phenotypes

Charcot-Marie-Tooth disease axonal type 2C|Neuromuscular disease|Autosomal dominant congenital benign spinal muscular atrophy|Inborn genetic diseases

Public references

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