Annotation Detail
Information
- Associated Genes
- FANCD2 LOC107303338
- Associated Variants
-
FANCD2 p.Tyr632Cys (p.Y632C)
(
ENST00000287647.7,
ENST00000419585.5,
ENST00000675286.1 )
FANCD2 p.Tyr632Cys (p.Y632C) ( ENST00000287647.7, ENST00000419585.5, ENST00000675286.1 ) - Associated Disease
- Fanconi anemia complementation group D2
- Source Database
- ClinVar
- Description
- NM_001018115.3(FANCD2):c.1895A>G (p.Tyr632Cys) AND Fanconi anemia complementation group D2
- ClinVar Allele ID
- 1024836
- ClinVar RefSeq Alternation Syntax
- NM_001374253.1:c.1784A>G
- ClinVar RefSeq Alternation Syntax
- NM_001319984.2:c.1895A>G
- ClinVar RefSeq Alternation Syntax
- NM_033084.6:c.1895A>G
- ClinVar RefSeq Alternation Syntax
- NM_001018115.3:c.1895A>G
- ClinVar RefSeq Alternation Syntax
- NM_001374254.1:c.1895A>G
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2021-07-19
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002486380
- ClinVar Disease
- Fanconi anemia complementation group D2
- Observed Origin Sample
- unknown
Drugs