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Variant (rsID / SNP)

rs28936686

CAV3

rs28936686 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,374. 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
3:8787374
Cytoband
3p25.3
HGVS
NM_033337.3(CAV3):c.277G>A (p.Ala93Thr)
Allele change
Missense_A93T

Associated conditions / phenotypes

Rippling muscle disease 2, autosomal recessive|Long QT syndrome|Cardiovascular phenotype|Rippling muscle disease 2

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.