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Variant (rsID / SNP)

rs201090446

CACNA1C

rs201090446 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,800,220. 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
12:2800220
Cytoband
12p13.33
HGVS
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser)
Allele change
Missense_N2111S

Associated conditions / phenotypes

Timothy syndrome|Cardiovascular phenotype|History of neurodevelopmental disorder|Long QT syndrome|Cardiac arrhythmia

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.