Annotation Detail
Information
- Associated Genes
- NEUROG3
- Associated Variants
-
NEUROG3 p.Phe199Ser (p.F199S)
(
ENST00000242462.5 )
NEUROG3 p.Phe199Ser (p.F199S) ( ENST00000242462.5 ) - Associated Disease
- congenital malabsorptive diarrhea 4
- Source Database
- ClinVar
- Description
- NM_020999.4(NEUROG3):c.596T>C (p.Phe199Ser) AND Congenital malabsorptive diarrhea 4
- ClinVar Allele ID
- 135211
- ClinVar RefSeq Alternation Syntax
- NM_020999.4:c.596T>C
- 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/RCV001781451
- ClinVar Disease
- Congenital malabsorptive diarrhea 4
- Observed Origin Sample
- germline
Drugs