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     
?/. 5 c.1018G>C r.(?) p.(Gly340Arg) - - VUS g.35426122G>C g.35458345G>C - - FANCE_000021 - PubMed: Seal et al 2003 - - Germline ? - - 0 - Arleen D. Auerbach
-?/. - c.1018G>C r.(?) p.(Gly340Arg) - - likely benign g.35426122G>C g.35458345G>C FANCE(NM_021922.2):c.1018G>C (p.G340R) - FANCE_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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