Annotation Detail
Information
- Associated Genes
- FANCA
- Associated Variants
-
FANCA c.2778+10C>T
(
ENST00000389301.8,
ENST00000564475.6,
ENST00000568369.6,
ENST00000696287.1 )
FANCA c.2778+10C>T ( ENST00000389301.8, ENST00000564475.6, ENST00000568369.6, ENST00000696287.1 ) - Associated Disease
- Fanconi anemia complementation group A
- Source Database
- ClinVar
- Description
- NM_000135.4(FANCA):c.2778+10C>T AND Fanconi anemia complementation group A
- ClinVar Allele ID
- 344613
- ClinVar RefSeq Alternation Syntax
- NM_001286167.3:c.2778+10C>T
- ClinVar RefSeq Alternation Syntax
- NM_000135.4:c.2778+10C>T
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001094434
- ClinVar Disease
- Fanconi anemia complementation group A
- Observed Origin Sample
- germline
Drugs