Variant (rsID / SNP)

rs575583988

rs575583988 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,702,390. 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: Microsatellite
Chromosome / position: 12:2702390
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)

Associated conditions / phenotypes

Long QT syndrome|History of neurodevelopmental disorder|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.