Variant (rsID / SNP)

rs2279944

rs2279944 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,012,247. Clinical significance in the table: Benign.

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Reference-table entries

CACNA1SBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 1:201012247
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.5048+162G>A
Allele change: Silent

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.