Variant (rsID / SNP)

rs80338777

rs80338777 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,047,043. Clinical significance in the table: Pathogenic.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNA1SPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:201047043
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)
Allele change: Missense_R528H

Associated conditions / phenotypes

Hypokalemic periodic paralysis, type 1|Malignant hyperthermia, susceptibility to, 5|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.