Full data view for gene FANCG

A Fanconi anemia mutation database.
Information The variants shown are described using the NM_004629.1 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     

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     
+/. 3 c.244dup r.(?) p.(fs*) FA Parent #2 - pathogenic g.35078667dup g.35078670dup - - FANCG_000024 - PubMed: Auerbach 2003 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 3 c.244dup r.(?) p.(fs*) FA Parent #2 - pathogenic g.35078667dup g.35078670dup - - FANCG_000024 - PubMed: Nakanishi 2001 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+?/. - c.244dup p.T81fsX307 p.(Ala82GlyfsTer73) - Parent #2 - likely pathogenic (recessive) g.35078667dup g.35078670dup 244dupG - FANCG_000024 - PubMed: Tsangaris 2011 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Tsangaris 2011 - - - Canada - - 0 - - 1 Johan den Dunnen
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