Variant (rsID / SNP)

rs80338778

rs80338778 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,047,044. The table records no clinical significance for this variant.

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Reference-table entries

CACNA1SNot classified

Variant type: single nucleotide variant
Chromosome / position: 1:201047044
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)
Allele change: Missense_R528G

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.