Genomic variant #0000036116

Individual ID 00017977
Chromosome 6
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.35424008_35424010del
Reference -
DB-ID FANCE_000008 See all 9 reported entries
dbSNP ID rs45451605
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 0.00156
Allele Count 9
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCE NM_021922.2 ?/? - c.733_735del r.(?) p.(Gly246del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002217 DNA SEQ-NG-I 1 - 12 Despoina Kalfakakou