Variant #0000040796 (NC_000009.11:g.35078601C>G, FANCG(NM_004629.1):c.307+1G>C)

Individual ID 00020094
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.35078601C>G
DNA change (hg38) g.35078604C>G
Published as -
ISCN -
DB-ID FANCG_000019 See all 27 reported entries
Variant remarks -
Reference PubMed: Auerbach 2003
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 Arleen D. Auerbach
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Haplotype     
FANCG NM_004629.1 +/. 3i c.307+1G>C r.spl p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020091 DNA SEQ - - FANCG 2 Arleen D. Auerbach