Genomic variant #0000033304

Individual ID 00017842
Chromosome 15
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.89828441C>T
Reference -
DB-ID FANCI_000034 See all 21 reported entries
dbSNP ID rs117125761
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 0.00356
Allele Count 21
Allele Number 5900
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCI NM_001113378.1 -/- - c.1813C>T r.(?) p.(Leu605Phe)
FANCI NM_018193.2 -/- - c.1813C>T r.(?) p.(Leu605Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001951 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou