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Variant (rsID / SNP)

rs201241092

TRPV4

rs201241092 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,246,258. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

TRPV4Benign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
12:110246258
Cytoband
12q24.11
HGVS
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg)
Allele change
Missense_S134R

Associated conditions / phenotypes

Scapuloperoneal spinal muscular atrophy|Autosomal dominant congenital benign spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Metatropic dysplasia|Spondylometaphyseal dysplasia, Kozlowski type|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.