Variant (rsID / SNP)
rs201620358
rs201620358 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,405,111. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NOTCH1Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:139405111
- Cytoband
- 9q34.3
- HGVS
- NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
- Allele change
- Missense_R912W
Associated conditions / phenotypes
Familial thoracic aortic aneurysm and aortic dissection|Cardiovascular phenotype|Aortic valve disease 1|Connective tissue disorder|Aortic valve disease 1|Adams-Oliver syndrome 5|Adams-Oliver syndrome 5
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.