Variant #0000040762 (NC_000009.11:g.35078637_35078638del, FANCG(NM_004629.1):c.271_272del)

Individual ID 00020185
Chromosome 9
Allele Parent #1
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.35078637_35078638del
DNA change (hg38) g.35078640_35078641del
Published as -
ISCN -
DB-ID FANCG_000044
Variant remarks -
Reference PubMed: Ameziane 2007
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 +/. 3 c.271_272del r.(?) p.(fs*) FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020182 DNA SEQ - - FANCG 2 Johan de Winter