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Variant (rsID / SNP)

rs57105517

CACNA1H

rs57105517 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CACNA1H. Location: chromosome 16, position 1,261,550. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

CACNA1HConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
16:1261550
Cytoband
16p13.3
HGVS
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp)
Allele change
Missense_R1474W

Associated conditions / phenotypes

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.