Genomic variant #0000034795

Individual ID 00021799
Chromosome 16
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89882973_89882974insC
Reference -
DB-ID FANCA_000209 See all 2 reported entries
dbSNP ID -
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 0.00035
Allele Count 2
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCA NM_000135.2 +/+ - c.50_51insG r.(?) p.(Arg18Profs*19)
FANCA NM_001018112.1 +/+ - c.50_51insG r.(?) p.(Arg18Profs*19)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002084 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou