Variant (rsID / SNP)

rs145376050

rs145376050 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,254,064. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

CACNA1HBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 16:1254064
Cytoband: 16p13.3
HGVS: NM_021098.3(CACNA1H):c.2057C>T (p.Pro686Leu)
Allele change: Missense_P686L

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.