Variant (rsID / SNP)

rs112532048

rs112532048 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,694,651. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA1CBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:2694651
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser)
Allele change: Missense_P817S

Associated conditions / phenotypes

Cardiovascular phenotype|History of neurodevelopmental disorder|Hypertrophic cardiomyopathy|Long QT syndrome

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.