Genomic variant #0000020540

Individual ID 00020084
Chromosome 3
Allele Parent #2
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.10094195T>A
Reference -
DB-ID FANCD2_000011 See all 44 reported entries
dbSNP ID rs200473919
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 0.00765
Allele Count 44
Allele Number 5752
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
FANCD2 NM_001018115.1 ?/? - c.1656+14T>A r.(=) p.(=)
FANCD2 NM_033084.3 ?/? - c.1656+14T>A r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000000739 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou