Annotation Detail
Information
- Associated Genes
- NEUROD1
- Associated Variants
-
NEUROD1 p.Thr45Ala (p.T45A)
(
ENST00000295108.4,
ENST00000683430.1,
ENST00000684079.1,
ENST00000684145.1 )
NEUROD1 p.Thr45Ala (p.T45A) ( ENST00000295108.4, ENST00000683430.1, ENST00000684079.1, ENST00000684145.1 ) - Associated Disease
- maturity-onset diabetes of the young type 6
- Source Database
- ClinVar
- Description
- NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala) AND Maturity-onset diabetes of the young type 6
- ClinVar Allele ID
- 790136
- ClinVar RefSeq Alternation Syntax
- NM_002500.5:c.133A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-09-05
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001784484
- ClinVar Disease
- Maturity-onset diabetes of the young type 6
- Observed Origin Sample
- germline
Drugs