Variant (rsID / SNP)
rs72546667
rs72546667 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,263. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
CAV3Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 3:8787263
- Cytoband
- 3p25.3
- HGVS
- NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
- Allele change
- Missense_G56S
Associated conditions / phenotypes
Rippling muscle disease 2|Limb-girdle muscular dystrophy|Cardiovascular phenotype|Limb-Girdle Muscular Dystrophy, Dominant|Long QT syndrome 1|Long QT syndrome|Cardiomyopathy|Caveolinopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.