Variant (rsID / SNP)
rs56177950
rs56177950 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,230,597. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
TRPV4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110230597
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile)
- Allele change
- Missense_V502I
Associated conditions / phenotypes
Spondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Autosomal dominant congenital benign spinal muscular atrophy|Scapuloperoneal spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.