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.

2 entries on 1 page. Showing entries 1 - 2.
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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     
?/. 1i c.84+3A>C r.spl? p.? - Maternal (confirmed) - VUS g.35079435T>G g.35079438T>G - - FANCG_000067 - Pilonetto DV - HC/UFPR (7/9/2015) - - Germline - - - 0 - DNA SEQ - - FANC - Pilonetto DV - HC/UFPR (7/9/2015) - - - - - - 0 - - 1 Daniela Pilonetto
+?/. 1i c.84+3A>C r.spl p.? - Parent #1 - likely pathogenic (recessive) g.35079435T>G g.35079438T>G - - FANCG_000067 combination variants not reported PubMed: Pilonetto 2017 - - Germline - 1/128 cases FA - 0 - DNA SEQ - - FANC - PubMed: Pilonetto 2017 - - - Brazil - - 0 - - 1 Johan den Dunnen
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