Variant (rsID / SNP)

rs201418838

rs201418838 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN4. Location: chromosome 15, position 73,615,424. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

HCN4Conflicting interpretations

Clinical significance (as recorded): Conflicting interpretations of pathogenicity
Variant type: single nucleotide variant
Chromosome / position: 15:73615424
Cytoband: 15q24.1
HGVS: NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser)
Allele change: Missense_P1004S

Associated conditions / phenotypes

Cardiomyopathy|Brugada syndrome 8

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.