Variant #0000040783 (NC_000009.11:g.35077342C>A, FANCG(NM_004629.1):c.565G>T)

Individual ID 00020078
Chromosome 9
Allele Parent #2
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.35077342C>A
DNA change (hg38) g.35077345C>A
Published as -
ISCN -
DB-ID FANCG_000016 See all 2 reported entries
Variant remarks This mutation is unique and is carried by a Lebanese patient. This same patient also carries the rare variant c.563C>T (p.A188V) on the same allele.
Reference PubMed: Auerbach 2003
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 +/. 5 c.565G>T r.(?) p.(Glu189*) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020075 DNA SEQ - - FANCG 2 Arleen D. Auerbach