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     
+/. 2 c.109_110del r.(?) p.(fs*) FA Parent #1 - pathogenic g.35079215_35079216del g.35079218_35079219del - - FANCG_000034 - PubMed: Demuth 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+/. 2 c.109_110del r.(?) p.(fs*) FA Parent #2 - pathogenic g.35079215_35079216del g.35079218_35079219del - - FANCG_000034 - PubMed: Demuth 2000 - - Germline ? - - 0 - DNA SEQ - - FANCG - - - ? ? ? (unknown) - - 0 - - 1 Arleen D. Auerbach
+?/. - c.109_110del r.(?) p.(Leu37Glufs*19) - Unknown - likely pathogenic g.35079215_35079216del - FANCG(NM_004629.1):c.109_110delCT (p.L37Efs*19) - FANCG_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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