Annotation Detail
Information
- Associated Genes
- SLX4
- Associated Variants
-
SLX4 p.Pro929Leu (p.P929L)
(
ENST00000294008.4 )
SLX4 p.Pro929Leu (p.P929L) ( ENST00000294008.4 ) - Associated Disease
- Fanconi anemia
- Source Database
- ClinVar
- Description
- NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) AND Fanconi anemia
- ClinVar Allele ID
- 242418
- ClinVar RefSeq Alternation Syntax
- NM_032444.4:c.2786C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2024-01-15
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000229102
- ClinVar Disease
- Fanconi anemia
- Observed Origin Sample
- germline
Drugs