Variant (rsID / SNP)

rs786205748

rs786205748 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,675,631. 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: 12:2675631
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.1552C>T (p.Arg518Cys)
Allele change: Missense_R518C

Associated conditions / phenotypes

Long QT syndrome|Long qt syndrome 8|Timothy 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.