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.

3 entries on 1 page. Showing entries 1 - 3.
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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.611C>T r.(?) p.(Ser204Leu) - - VUS g.35423886C>T g.35456109C>T - - FANCE_000027 - - - rs7761870 Germline ? ? - 0 - Arleen D. Auerbach
-/. - c.611C>T r.(?) p.(Ser204Leu) - - benign g.35423886C>T g.35456109C>T FANCE(NM_021922.2):c.611C>T (p.(Ser204Leu), p.S204L) - FANCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.611C>T r.(?) p.(Ser204Leu) - - likely benign g.35423886C>T g.35456109C>T FANCE(NM_021922.2):c.611C>T (p.(Ser204Leu), p.S204L) - FANCE_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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