All variants in the ERCC4 gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_005236.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. - c.1765C>T r.1765c>u p.Arg589Trp - - pathogenic (recessive) g.14029554C>T g.13935697C>T - - ERCC4_000052 - PubMed: Kashiyama 2013 - - Germline - - - - - Johan den Dunnen
+/. - c.1765C>T r.(?) p.(Arg589Trp) - - pathogenic (recessive) g.14029554C>T g.13935697C>T - - ERCC4_000052 - PubMed: Ahmad 2010 - - Germline - - - - - Johan den Dunnen
+/. - c.1765C>T r.(?) p.(Arg589Trp) - - pathogenic (recessive) g.14029554C>T g.13935697C>T - - ERCC4_000052 - PubMed: Ahmad 2010 - - Germline - - - - - Johan den Dunnen
+/. - c.1765C>T r.(?) p.(Arg589Trp) - - pathogenic (recessive) g.14029554C>T g.13935697C>T - - ERCC4_000052 - PubMed: Ahmad 2010 - - Germline - - - - - Johan den Dunnen
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