Genomic variant #0000031869

Individual ID 00021631
Chromosome 11
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.22646984C>T
Reference -
DB-ID FANCF_000001 See all 28 reported entries
dbSNP ID rs61752920
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 0.00475
Allele Count 28
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCF NM_022725.3 -/- - c.373G>A r.(?) p.(Asp125Asn)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001830 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou