Variant (rsID / SNP)

rs199758244

rs199758244 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,038,623. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA1SUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 1:201038623
Cytoband: 1q32.1
HGVS: NM_000069.3(CACNA1S):c.2467C>T (p.Arg823Trp)
Allele change: Missense_R823W

Associated conditions / phenotypes

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.