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Variant (rsID / SNP)

rs201593267

CAV3

rs201593267 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,298. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CAV3Conflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
3:8787298
Cytoband
3p25.3
HGVS
NM_033337.3(CAV3):c.201C>A (p.Val67=)
Allele change
Synonymous_V67V

Associated conditions / phenotypes

Cardiovascular phenotype|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.