Variant (rsID / SNP)
rs147522485
rs147522485 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to NOTCH2. Location: chromosome 1, position 120,458,579. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
NOTCH2Conflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 1:120458579
- Cytoband
- 1p12
- HGVS
- NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys)
- Allele change
- Missense_R2256C
Associated conditions / phenotypes
Hajdu-Cheney syndrome
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.