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Variant (rsID / SNP)

rs116840771

CAV3

rs116840771 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,775,526. 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
3:8775526
Cytoband
3p25.3
HGVS
NM_033337.3(CAV3):c.-37G>A
Allele change
Silent

Associated conditions / phenotypes

Limb-Girdle Muscular Dystrophy, Dominant|Caveolinopathy|Congenital long QT syndrome|Toe walking

Public references

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