Variant (rsID / SNP)

rs140354126

rs140354126 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN4. Location: chromosome 15, position 73,616,253. 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: 15:73616253
Cytoband: 15q24.1
HGVS: NM_005477.3(HCN4):c.2181C>T (p.His727=)
Allele change: Synonymous_H727H

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.