Variant (rsID / SNP)
rs267607145
rs267607145 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,236,625. Clinical significance in the table: Pathogenic.
Reference-table entries
TRPV4Pathogenic
- Clinical significance (as recorded)
- Pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 12:110236625
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
- Allele change
- Missense_R316C
Associated conditions / phenotypes
Charcot-Marie-Tooth disease axonal type 2C|Scapuloperoneal spinal muscular atrophy|Neuromuscular disease|Charcot-Marie-Tooth disease|Autosomal dominant distal hereditary motor neuropathy|TRPV4-related disorders
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.