Variant (rsID / SNP)

rs149375325

rs149375325 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CAV3. Location: chromosome 3, position 8,787,403. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CAV3Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 3:8787403
Cytoband: 3p25.3
HGVS: NM_033337.3(CAV3):c.306G>A (p.Ala102=)
Allele change: Synonymous_A102A

Associated conditions / phenotypes

Long QT syndrome|Cardiovascular phenotype

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.