Variant (rsID / SNP)
rs148453034
rs148453034 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN4. Location: chromosome 15, position 73,624,487. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
HCN4Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:73624487
- Cytoband
- 15q24.1
- HGVS
- NM_005477.3(HCN4):c.1356C>T (p.Ser452=)
- Allele change
- Synonymous_S452S
Associated conditions / phenotypes
Cardiovascular phenotype|Brugada syndrome 8|Sick sinus syndrome 2, autosomal dominant
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
