Genomic variant #0000013061

Individual ID 00016672
Chromosome 9
Allele Parent #2
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.35079502G>A
Reference -
DB-ID FANCG_000006 See all 20 reported entries
dbSNP ID rs35984312
Variant remarks -
Genetic origin Germline
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Variant not found in online data sets
Average frequency in greek population 0.00365
Allele Count 21
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCG NM_004629.1 -/- - c.20C>T r.(?) p.(Ser7Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000339 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou