Genomic variant #0000023235

Individual ID 00021386
Chromosome 15
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89858549C>T
Reference -
DB-ID FANCI_000075
dbSNP ID rs121918164
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 0.00017
Allele Count 1
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCI NM_001113378.1 +/+ - c.3853C>T r.(?) p.(Arg1285*)
FANCI NM_018193.2 +/+ - c.3673C>T r.(?) p.(Arg1225*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000998 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou