Genomic variant #0000033275

Individual ID 00021727
Chromosome 9
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.35075528T>A
Reference -
DB-ID FANCG_000004 See all 5 reported entries
dbSNP ID rs148808709
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 0.00087
Allele Count 5
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.1367A>T r.(?) p.(His456Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001949 DNA SEQ-NG-I 1 - 16 Despoina Kalfakakou