Annotation Detail
Information
- Associated Genes
- SLX4
- Associated Variants
-
SLX4 p.Pro1527= (p.P1527=)
(
ENST00000294008.4 )
SLX4 p.Pro1527= (p.P1527=) ( ENST00000294008.4 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) AND Fanconi anemia
- ClinVar Allele ID
- 255708
- ClinVar RefSeq Alternation Syntax
- NM_032444.4:c.4581G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-02-01
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000377534
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs