Annotation Detail
Information
- Associated Genes
- FANCC AOPEP
- Associated Variants
-
FANCC p.Leu199Pro (p.L199P)
(
ENST00000289081.8,
ENST00000375305.6,
ENST00000490972.7 )
FANCC p.Leu199Pro (p.L199P) ( ENST00000289081.8, ENST00000375305.6, ENST00000490972.7 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_000136.3(FANCC):c.596T>C (p.Leu199Pro) AND Fanconi anemia
- ClinVar Allele ID
- 836337
- ClinVar RefSeq Alternation Syntax
- NM_000136.3:c.596T>C
- ClinVar RefSeq Alternation Syntax
- NM_001243743.2:c.596T>C
- ClinVar RefSeq Alternation Syntax
- NM_001243744.2:c.596T>C
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-09-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001058577
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs