Variant (rsID / SNP)
rs201815805
rs201815805 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,232,124. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRPV4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110232124
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.1491+10C>T
- Allele change
- Silent
Associated conditions / phenotypes
Autosomal dominant congenital benign spinal muscular atrophy|Scapuloperoneal spinal muscular atrophy|Metatropic dysplasia|Brachyrachia (short spine dysplasia)|Spondylometaphyseal dysplasia, Kozlowski type|Charcot-Marie-Tooth disease axonal type 2C|Charcot-Marie-Tooth disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.