Variant #0000040771 (NC_000009.11:g.35078601C>G, FANCG(NM_004629.1):c.307+1G>C)

Individual ID 00020194
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.35078601C>G
DNA change (hg38) g.35078604C>G
Published as -
ISCN -
DB-ID FANCG_000019 See all 27 reported entries
Variant remarks -
Reference PubMed: Yamada 2000
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 Myungshin Kim
Database submission license No license selected
Created by Myungshin Kim
Options




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     
0000020191 DNA SEQ - - FANCG 2 Myungshin Kim