Genomic variant #0000000490

Individual ID 00015517
Chromosome 15
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.89857934C>T
Reference -
DB-ID FANCI_000004 See all 3 reported entries
dbSNP ID rs202066338
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 0.00052
Allele Count 3
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.3812C>T r.(?) p.(Ser1271Phe)
FANCI NM_018193.2 ?/? - c.3632C>T r.(?) p.(Ser1211Phe)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000011 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou