Genomic variant #0000034167

Individual ID 00021758
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.89807795A>G
Reference -
DB-ID FANCI_000047 See all 6 reported entries
dbSNP ID rs112932178
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 0.00104
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCI NM_001113378.1 ?/? - c.712A>G r.(?) p.(Ser238Gly)
FANCI NM_018193.2 ?/? - c.712A>G r.(?) p.(Ser238Gly)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000002027 DNA SEQ-NG-I 1 - 4 Despoina Kalfakakou