Variant #0000040732 (NC_000009.11:g.35079147C>T, FANCG(NM_004629.1):c.175+1G>A)

Individual ID 00020155
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.35079147C>T
DNA change (hg38) g.35079150C>T
Published as -
ISCN -
DB-ID FANCG_000027 See all 2 reported entries
Variant remarks -
Reference PubMed: Demuth 2000
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 1.0E-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 +/. 2i c.175+1G>A r.spl p.? FA



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000020152 DNA SEQ - - FANCG 2 Arleen D. Auerbach