Variant (rsID / SNP)

rs267606698

rs267606698 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,036,045. Clinical significance in the table: Likely pathogenic.

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Reference-table entries

CACNA1SLikely pathogenic

Clinical significance (as recorded): Likely pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:201036045
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)
Allele change: Missense_V876E

Associated conditions / phenotypes

Hypokalemic periodic paralysis, type 1

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.