Variant #0000075179 (NC_000009.11:g.35076027T>C, FANCG(NM_004629.1):c.1077-2A>G)

Individual ID 00046617
Chromosome 9
Allele Paternal (inferred)
Affects function (as reported) Effect unknown
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 -
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 Avani P. Solanki
Database submission license No license selected
Created by Arleen D. Auerbach
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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.? -



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000046726 DNA SEQ - - FANCG 2 Daniela Pilonetto