Variant (rsID / SNP)

rs28930068

rs28930068 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,022,666. Clinical significance in the table: Pathogenic.

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Reference-table entries

CACNA1SPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 1:201022666
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)
Allele change: Missense_R1239H

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.