Genomic variant #0000043462

Individual ID 00022089
Chromosome 3
Allele Parent #2
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.10088407_10088410del
Reference -
DB-ID FANCD2_000168 See all 52 reported entries
dbSNP ID -
Variant remarks -
Genetic origin -
Segregation -
Also Known As -
Is Greek Founder -
Geographic Origin (for founder variants) -
Average frequency (large NGS studies) Retrieve
Average frequency in greek population 0.00881
Allele Count 52
Allele Number 5900
Owner Stevi Xera
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCD2 NM_001018115.1 ./. - c.1278_1278+3del r.spl? p.?
FANCD2 NM_033084.3 ./. - c.1278_1278+3del r.spl? p.?



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007587 DNA SEQ-NG-I 1 - 44 Stevi Xera