Variant #0000119847 (NC_000009.11:g.35076027T>C, FANCG(NM_004629.1):c.1077-2A>G)

Individual ID 00074611
Chromosome 9
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.35076027T>C
DNA change (hg38) g.35076030T>C
Published as -
ISCN -
DB-ID FANCG_000020 See all 74 reported entries
Variant remarks -
Reference Pilonetto DV - HC/UFPR (07/08/2016)
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 2.0E-5 View details
Owner Daniela Pilonetto
Database submission license No license selected
Created by Daniela Pilonetto
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 +/. 8i c.1077-2A>G r.spl p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000074775 DNA PCRdig - - FANCG 1 Daniela Pilonetto
0000074776 DNA SEQ - - FANCG 2 Daniela Pilonetto