Annotation Detail
Information
- Associated Genes
- FANCD2 LOC107303338
- Associated Variants
-
FANCD2 p.Pro714Leu (p.P714L)
(
ENST00000419585.5,
ENST00000287647.7,
ENST00000675286.1 )
FANCD2 p.Pro714Leu (p.P714L) ( ENST00000287647.7, ENST00000419585.5, ENST00000675286.1 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) AND Fanconi anemia
- ClinVar Allele ID
- 138054
- ClinVar RefSeq Alternation Syntax
- NM_001374253.1:c.2030C>T
- ClinVar RefSeq Alternation Syntax
- NM_001319984.2:c.2141C>T
- ClinVar RefSeq Alternation Syntax
- NM_033084.6:c.2141C>T
- ClinVar RefSeq Alternation Syntax
- NM_001018115.3:c.2141C>T
- ClinVar RefSeq Alternation Syntax
- NM_001374254.1:c.2141C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000372215
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs