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.

8 entries on 1 page. Showing entries 1 - 8.
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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     
?/. 5i c.1114-8G>A r.(?) p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 individual previously published in Waisfisz et al, 1999 as a FA-E cell line. PubMed: de Winter 2000 - - Germline ? - - 0 - Johan de Winter
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 individual previously published in Waisfisz et al, 1999 as a FA-E cell line. PubMed: de Winter 2000 - - Germline ? - - 0 - Johan de Winter
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
?/. 5i c.1114-8G>A r.spl? p.(Ile372Leufs*) FA - VUS g.35427100G>A g.35459323G>A - - FANCE_000003 - - - - Germline ? - - 0 - Arleen D. Auerbach
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