All variants in the FANCE gene

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_021922.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 2 c.355C>T r.(?) p.(Gln119*) FA - pathogenic g.35423630C>T g.35455853C>T - - FANCE_000001 individual previously published in Joenje et al, 1997 as a FA-E reference cell line. PubMed: de Winter 2000 - - Germline ? - - 0 - Johan de Winter
+/. 2 c.355C>T r.(?) p.(Gln119*) FA - pathogenic g.35423630C>T g.35455853C>T - - FANCE_000001 individual previously published in Joenje et al, 1997 as a FA-E reference cell line. PubMed: de Winter 2000 - - Germline ? - - 0 - Johan de Winter
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