Variant (rsID / SNP)
rs187864727
rs187864727 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,240,859. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110240859
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
- Allele change
- Missense_A217S
Associated conditions / phenotypes
Neuromuscular disease|Skeletal dysplasia|Autosomal dominant congenital benign spinal muscular atrophy|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|Metatropic dysplasia|Scapuloperoneal spinal muscular atrophy|Charcot-Marie-Tooth disease|Charcot-Marie-Tooth disease axonal type 2C|Connective tissue disorder
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.