Genomic variant #0000017812

Individual ID 00019862
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.89850836T>C
Reference -
DB-ID FANCI_000003 See all 9 reported entries
dbSNP ID rs185599057
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     
FANCI NM_001113378.1 -/- - c.3592-8T>C r.(=) p.(=)
FANCI NM_018193.2 -/- - c.3412-8T>C r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000519 DNA SEQ-NG-I 1 - 6 Despoina Kalfakakou