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Variant (rsID / SNP)

rs200400235

CACNA1H

rs200400235 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,260,793. 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
16:1260793
Cytoband
16p13.3
HGVS
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr)
Allele change
Missense_A1349T

Associated conditions / phenotypes

Idiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV

Public references

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