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Variant (rsID / SNP)

rs201651793

CACNA1H

rs201651793 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,250,378. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1HConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:1250378
Cytoband
16p13.3
HGVS
NM_021098.3(CACNA1H):c.926G>A (p.Arg309His)
Allele change
Missense_R309H

Associated conditions / phenotypes

Hyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy

Public references

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