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.

9 entries on 1 page. Showing entries 1 - 9.
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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     
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 FANCE protein not expressed PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 FANCE protein not expressed PubMed: Ameziane 2007 - - Germline ? - - 0 - Johan de Winter
+/. 5 c.1111C>T r.(?) p.(Arg371Trp) FA - pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 - PubMed: Gille 2012, Journal: Gille 2012 - - Germline ? - - 0 - Johan de Winter
+?/. - c.1111C>T r.(?) p.(Arg371Trp) - - likely pathogenic g.35426215C>T g.35458438C>T - - FANCE_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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