Variant (rsID / SNP)

rs140575619

rs140575619 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,540. 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: 3:8787540
Cytoband: 3p25.3
HGVS: NM_033337.3(CAV3):c.443G>A (p.Arg148Gln)
Allele change: Missense_R148Q

Associated conditions / phenotypes

Long QT syndrome|Cardiomyopathy|Caveolinopathy

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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