Variant (rsID / SNP)

rs201392574

rs201392574 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,676,848. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1CConflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 12:2676848
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.1783G>A (p.Val595Ile)
Allele change: Missense_V595I

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.