Genomic variant #0000031992

Individual ID 00021645
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.10070369T>C
Reference -
DB-ID FANCD2_000051 See all 5 reported entries
dbSNP ID rs150075366
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 0.00085
Allele Count 5
Allele Number 5900
Owner Despoina Kalfakakou
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     
0000001842 DNA SEQ-NG-I 1 - 10 Despoina Kalfakakou