Variant (rsID / SNP)
rs72546668
rs72546668 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,330. 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
- 3:8787330
- Cytoband
- 3p25.3
- HGVS
- NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
- Allele change
- Missense_T78M
Associated conditions / phenotypes
Long QT syndrome 9|Long QT syndrome 2/9, digenic|Long QT syndrome|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome 1|Caveolinopathy
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.