Variant (rsID / SNP)

rs370145265

rs370145265 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1C. Location: chromosome 12, position 2,693,676. Clinical significance in the table: Likely benign.

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Reference-table entries

CACNA1CLikely benign

Clinical significance (as recorded): Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:2693676
Cytoband: 12p13.33
HGVS: NM_000719.7(CACNA1C):c.2232A>C (p.Leu744=)
Allele change: Synonymous_L744L

Associated conditions / phenotypes

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.