Variant (rsID / SNP)

rs149367557

rs149367557 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,265,066. 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: 16:1265066
Cytoband: 16p13.3
HGVS: NM_021098.3(CACNA1H):c.5024G>A (p.Arg1675Gln)
Allele change: Missense_R1669Q

Associated conditions / phenotypes

Idiopathic generalized epilepsy|Hyperaldosteronism, familial, type IV

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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