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 complementation group P
Source Database
ClinVar
Description
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) AND Fanconi anemia complementation group P
ClinVar Allele ID
242421
ClinVar RefSeq Alternation Syntax
NM_032444.4:c.2628C>T
Clinical Significance Description
Benign/Likely benign
Clinical Significance Last Update
2023-07-07
Clinical Significance Review Status
criteria provided, multiple submitters, no conflicts
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001119852
ClinVar Disease
Fanconi anemia complementation group P
Observed Origin Sample
germline
Drugs