Annotation Detail
Information
- Associated Genes
- NOTCH1 LOC126860794
- Associated Variants
-
NOTCH1 p.Ala2044Thr (p.A2044T)
(
ENST00000651671.1,
ENST00000680133.1,
ENST00000680218.1,
ENST00000680668.1,
ENST00000680778.1 )
NOTCH1 p.Ala2044Thr (p.A2044T) ( ENST00000651671.1, ENST00000680133.1, ENST00000680218.1, ENST00000680668.1, ENST00000680778.1 ) - Associated Disease
- Adams-Oliver syndrome 5
- Source Database
- ClinVar
- Description
- NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) AND Adams-Oliver syndrome 5
- ClinVar Allele ID
- 258570
- ClinVar RefSeq Alternation Syntax
- NM_017617.5:c.6130G>A
- Clinical Significance Description
- Conflicting interpretations of pathogenicity
- Clinical Significance Last Update
- 2024-01-16
- Clinical Significance Review Status
- criteria provided, conflicting interpretations
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001210978
- ClinVar Disease
- Adams-Oliver syndrome 5
- Observed Origin Sample
- germline
Drugs