Annotation Detail
Information
- Associated Genes
- APEX1
- Associated Variants
-
APEX1 p.Ile64Val (p.I64V)
(
ENST00000216714.8,
ENST00000555414.5,
ENST00000557054.1,
ENST00000398030.8 )
APEX1 p.Ile64Val (p.I64V) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001641.4(APEX1):c.190A>G (p.Ile64Val) AND not provided
- ClinVar Allele ID
- 702798
- ClinVar RefSeq Alternation Syntax
- NM_001244249.2:c.190A>G
- ClinVar RefSeq Alternation Syntax
- NM_001641.4:c.190A>G
- ClinVar RefSeq Alternation Syntax
- NM_080648.3:c.190A>G
- ClinVar RefSeq Alternation Syntax
- NM_080649.3:c.190A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-06-09
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000950790
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs