Genomic variant #0000030833

Individual ID 00021551
Chromosome 15
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.89825056A>G
Reference -
DB-ID FANCI_000018 See all 11 reported entries
dbSNP ID rs144908351
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 0.00191
Allele Count 11
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.1573A>G r.(?) p.(Met525Val)
FANCI NM_018193.2 -?/-? - c.1573A>G r.(?) p.(Met525Val)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001730 DNA SEQ-NG-I 1 - 14 Despoina Kalfakakou