Genomic variant #0000043742

Individual ID 00022103
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.10070369T>C
Reference -
DB-ID FANCD2_000051 See all 5 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 0.00085
Allele Count 5
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.28T>C r.(?) p.(Ser10Pro)
FANCD2 NM_033084.3 ./. - c.28T>C r.(?) p.(Ser10Pro)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007601 DNA SEQ-NG-I 1 - 67 Stevi Xera