Variant (rsID / SNP)

rs80315385

rs80315385 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,614,098. Clinical significance in the table: Pathogenic.

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Reference-table entries

CACNA1CPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:2614098
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.1204G>A (p.Gly402Ser)
Allele change: Missense_G402S

Associated conditions / phenotypes

Timothy syndrome|Congenital long QT syndrome|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.