Annotation Detail
Information
- Associated Genes
- APEX1 LOC124958010
- Associated Variants
-
APEX1 p.Gly241Arg (p.G241R)
(
ENST00000216714.8,
ENST00000555414.5,
ENST00000398030.8,
ENST00000557054.1 )
APEX1 p.Gly241Arg (p.G241R) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- APEX1-related disorder
- Source Database
- ClinVar
- Description
- NM_001641.4(APEX1):c.721G>A (p.Gly241Arg) AND APEX1-related disorder
- ClinVar Allele ID
- 725607
- ClinVar RefSeq Alternation Syntax
- NM_001641.4:c.721G>A
- ClinVar RefSeq Alternation Syntax
- NM_080648.3:c.721G>A
- ClinVar RefSeq Alternation Syntax
- NM_080649.3:c.721G>A
- ClinVar RefSeq Alternation Syntax
- NM_001244249.2:c.721G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2019-05-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV003920535
- ClinVar Disease
- APEX1-related disorder
- Observed Origin Sample
- germline
Drugs