Variant (rsID / SNP)

rs587777493

rs587777493 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN1. Location: chromosome 5, position 45,645,322. Clinical significance in the table: Pathogenic.

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Reference-table entries

HCN1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 5:45645322
Cytoband: 5p12
HGVS: NM_021072.4(HCN1):c.814T>C (p.Ser272Pro)
Allele change: Missense_S272P

Associated conditions / phenotypes

Developmental and epileptic encephalopathy, 24

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.