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.436del r.(?) p.(Val146Trpfs*33) FA - pathogenic g.35423711del g.35455934del - - FANCE_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
+/. 2 c.436del r.(?) p.(Val146Trpfs*33) FA - pathogenic g.35423711del g.35455934del - - FANCE_000009 - - - - Germline ? - - 0 - Arleen D. Auerbach
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