Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs4915212

CACNA1S

rs4915212 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,046,205. Clinical significance in the table: Benign/Likely benign.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

CACNA1SBenign
Clinical significance (as recorded)
Benign/Likely benign
Variant type
single nucleotide variant
Chromosome / position
1:201046205
Cytoband
1q32.1
HGVS
NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)
Allele change
Missense_R557H

Associated conditions / phenotypes

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

Public references

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