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Variant (rsID / SNP)

rs797045031

CACNA1S

rs797045031 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1S. Location: chromosome 1, position 201,027,621. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

CACNA1SPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
1:201027621
Cytoband
1q32.1
HGVS
NM_000069.3(CACNA1S):c.3526-2A>G
Allele change
Silent

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.