Variant (rsID / SNP)

rs199664795

rs199664795 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,250,278. Clinical significance in the table: Uncertain significance.

ShareE-Mail WhatsApp LinkedIn X Facebook Telegram

Reference-table entries

CACNA1HUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 16:1250278
Cytoband: 16p13.3
HGVS: NM_021098.3(CACNA1H):c.826C>T (p.Arg276Trp)
Allele change: Missense_R276W

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.