Variant (rsID / SNP)
rs541606391
rs541606391 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to TRPV4. Location: chromosome 12, position 110,231,334. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
TRPV4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- Deletion
- Chromosome / position
- 12:110231334
- Cytoband
- 12q24.11
- HGVS
- NM_021625.5(TRPV4):c.1656del (p.Tyr553fs)
Associated conditions / phenotypes
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.