Full data view for gene ERCC4

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_005236.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Haplotype     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. 11 c.2169C>A r.(?) p.(Cys723*) - Unknown - VUS g.14041622C>A g.13947765C>A - - ERCC4_000005 - - - - Germline - - - - - DNA SEQ-NG - - - - PubMed: Bell 2011 - - - - - - - - - 1 Global Variome, with Curator vacancy
+/. - c.2169C>A r.(?) p.(Cys723Ter) - Unknown - pathogenic g.14041622C>A g.13947765C>A - - ERCC4_000005 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - - - DNA SEQ-NG - 81-gene panel cancer, colon 588893 PubMed: Jiang 2022 analysis 486 colorectal cancer patients M - China - - - - - 1 Johan den Dunnen
+/. - c.2169C>A r.(?) p.(Cys723Ter) - Unknown - pathogenic g.14041622C>A g.13947765C>A - - ERCC4_000005 - PubMed: Jiang 2022 - - Germline/De novo (untested) - 1/486 cases - - - DNA SEQ-NG - 81-gene panel cancer, colon 592158 PubMed: Jiang 2022 analysis 486 colorectal cancer patients F - China - - - - - 1 Johan den Dunnen
+/. - c.2169C>A r.(?) p.(Cys723Ter) - Unknown - pathogenic g.14041622C>A g.13947765C>A - - ERCC4_000005 - Yuen (unpublished) - - Germline - - - - - DNA SEQ-NG - - MINAS MINAS_14 Yuen (unpublished) - F - Singapore China - - - - 1 Jeanette Yuen
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