Annotation Detail
Information
- Associated Genes
- APEX1
- Associated Variants
-
APEX1 p.Asp148Glu (p.D148E)
(
ENST00000555414.5,
ENST00000216714.8,
ENST00000557054.1,
ENST00000398030.8 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- APEX1-related disorder
- Source Database
- ClinVar
- Description
- NM_001641.4(APEX1):c.444T>G (p.Asp148Glu) AND APEX1-related disorder
- ClinVar Allele ID
- 1287025
- ClinVar RefSeq Alternation Syntax
- NM_001641.4:c.444T>G
- ClinVar RefSeq Alternation Syntax
- NM_001244249.2:c.444T>G
- ClinVar RefSeq Alternation Syntax
- NM_080649.3:c.444T>G
- ClinVar RefSeq Alternation Syntax
- NM_080648.3:c.444T>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-10-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003976102
- ClinVar Disease
- APEX1-related disorder
- Observed Origin Sample
- germline
Drugs