Variant (rsID / SNP)

rs727503958

rs727503958 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN4. Location: chromosome 15, position 73,659,991. 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: 15:73659991
Cytoband: 15q24.1
HGVS: NM_005477.3(HCN4):c.621C>G (p.Arg207=)
Allele change: Synonymous_R207R

Associated conditions / phenotypes

Cardiovascular phenotype|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.