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Variant (rsID / SNP)

rs119454949

CACNA1H

rs119454949 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,255,153. Clinical significance in the table: Uncertain significance.

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Reference-table entries

CACNA1HUncertain significance
Clinical significance (as recorded)
Uncertain significance
Variant type
single nucleotide variant
Chromosome / position
16:1255153
Cytoband
16p13.3
HGVS
NM_021098.3(CACNA1H):c.2491G>A (p.Val831Met)
Allele change
Missense_V831M

Associated conditions / phenotypes

Epilepsy, childhood absence, susceptibility to, 6|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.