Variant (rsID / SNP)
rs772475990
rs772475990 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,775,561. 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
- 3:8775561
- Cytoband
- 3p25.3
- HGVS
- NM_033337.3(CAV3):c.-2C>T
- Allele change
- Silent
Associated conditions / phenotypes
Cardiomyopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.