Variant (rsID / SNP)
rs2229974
rs2229974 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH1. Location: chromosome 9, position 139,391,636. Clinical significance in the table: Benign.
Reference-table entries
NOTCH1Benign
- Clinical significance (as recorded)
- Benign
- Variant type
- single nucleotide variant
- Chromosome / position
- 9:139391636
- Cytoband
- 9q34.3
- HGVS
- NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=)
- Allele change
- Synonymous_D2185D
Associated conditions / phenotypes
Aortic valve disease 1|Cardiovascular phenotype|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.