Variant (rsID / SNP)
rs138714806
rs138714806 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to HCN4. Location: chromosome 15, position 73,617,673. Clinical significance in the table: Benign/Likely benign.
Reference-table entries
HCN4Benign
- Clinical significance (as recorded)
- Benign/Likely benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 15:73617673
- Cytoband
- 15q24.1
- HGVS
- NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr)
- Allele change
- Missense_S568T
Associated conditions / phenotypes
Brugada syndrome 8|Sick sinus syndrome 2, autosomal dominant|Cardiovascular phenotype
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
