Annotation Detail
Information
- Associated Genes
- IREB2
- Associated Variants
-
IREB2 p.Ala872= (p.A872=)
(
ENST00000258886.13 )
IREB2 p.Ala872= (p.A872=) ( ENST00000258886.13 ) - Associated Disease
- Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- Source Database
- ClinVar
- Description
- NM_004136.4(IREB2):c.2616C>T (p.Ala872=) AND Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- ClinVar Allele ID
- 1290208
- ClinVar RefSeq Alternation Syntax
- NM_001320941.2:c.1866C>T
- ClinVar RefSeq Alternation Syntax
- NM_001320942.2:c.2445C>T
- ClinVar RefSeq Alternation Syntax
- NM_004136.4:c.2616C>T
- ClinVar RefSeq Alternation Syntax
- NM_001354994.2:c.2445C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-08-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001731021
- ClinVar Disease
- Neurodegeneration, early-onset, with choreoathetoid movements and microcytic anemia
- Observed Origin Sample
- germline
Drugs