Variant (rsID / SNP)
rs147250678
rs147250678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,514. 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
- 3:8787514
- Cytoband
- 3p25.3
- HGVS
- NM_033337.3(CAV3):c.417C>T (p.Val139=)
- Allele change
- Synonymous_V139V
Associated conditions / phenotypes
Cardiomyopathy|Long QT syndrome|Caveolinopathy|Limb-Girdle Muscular Dystrophy, Dominant|Congenital long QT syndrome|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.