Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs139956524

CACNA1S

rs139956524 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,038,650. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA1SConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:201038650
Cytoband
1q32.1
HGVS
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)
Allele change
Missense_A814T

Associated conditions / phenotypes

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

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.