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Variant (rsID / SNP)

rs201132615

TRPV4

rs201132615 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,232,249. Clinical significance in the table: Uncertain significance.

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Reference-table entries

TRPV4Uncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
12:110232249
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.1376T>G (p.Leu459Arg)
Allele change
Missense_L399R

Associated conditions / phenotypes

Inborn genetic diseases|Charcot-Marie-Tooth disease axonal type 2C|11 conditions

Public references

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