Variant (rsID / SNP)

rs60593994

rs60593994 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,245,509. Clinical significance in the table: Benign.

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Reference-table entries

CACNA1HBenign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 16:1245509
Cytoband: 16p13.3
HGVS: NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)
Allele change: Missense_Q163H

Associated conditions / phenotypes

Epilepsy, childhood absence, susceptibility to, 6|Hyperaldosteronism, familial, type IV|Idiopathic generalized epilepsy

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.