Annotation Detail
Information
- Associated Genes
- SLX4
- Associated Variants
-
SLX4 p.Asp876= (p.D876=)
(
ENST00000294008.4 )
SLX4 p.Asp876= (p.D876=) ( ENST00000294008.4 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_032444.4(SLX4):c.2628C>T (p.Asp876=) AND Fanconi anemia
- ClinVar Allele ID
- 242421
- ClinVar RefSeq Alternation Syntax
- NM_032444.4:c.2628C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000227235
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs