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