Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA p.Ala1233Thr (p.A1233T)
(
ENST00000389301.8,
ENST00000568369.6,
ENST00000564475.6,
ENST00000696287.1 )
FANCA p.Ala1233Thr (p.A1233T) ( ENST00000389301.8, ENST00000564475.6, ENST00000568369.6, ENST00000696287.1 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr) AND Fanconi anemia
- ClinVar Allele ID
- 957930
- ClinVar RefSeq Alternation Syntax
- NM_001286167.3:c.3697G>A
- ClinVar RefSeq Alternation Syntax
- NM_000135.4:c.3697G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-04-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001247464
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs