Variant (rsID / SNP)
rs150312046
rs150312046 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to SCN4B. Location: chromosome 11, position 118,007,822. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
SCN4BConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 11:118007822
- Cytoband
- 11q23.3
- HGVS
- NM_174934.4(SCN4B):c.607G>A (p.Val203Met)
- Allele change
- Silent
Associated conditions / phenotypes
Congenital long QT syndrome|Long QT syndrome|Long QT syndrome 10
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.
