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Variant (rsID / SNP)

rs200848930

CACNA1S

rs200848930 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,012,575. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1SConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
1:201012575
Cytoband
1q32.1
HGVS
NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)
Allele change
Missense_L1628F

Associated conditions / phenotypes

Hypokalemic periodic paralysis|Malignant hyperthermia of anesthesia|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.