Variant (rsID / SNP)
rs116840776
rs116840776 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,313. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
CAV3Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:8787313
- Cytoband
- 3p25.3
- HGVS
- NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
- Allele change
- Missense_C72W
Associated conditions / phenotypes
Rippling muscle disease 2|Limb-girdle muscular dystrophy|Cardiovascular phenotype|Distal myopathy, Tateyama type|Long QT syndrome 9|Elevated circulating creatine kinase concentration|Rippling muscle disease 2|Hypertrophic cardiomyopathy 1|Cardiomyopathy|Long QT syndrome 1|Long QT syndrome|Caveolinopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.