Genomic variant #0000041744

Individual ID 00022040
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.10106532C>T
Reference -
DB-ID FANCD2_000162 See all 22 reported entries
dbSNP ID rs3864017
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 0.00407
Allele Count 24
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.2141C>T r.(?) p.(Pro714Leu)
FANCD2 NM_033084.3 ./. - c.2141C>T r.(?) p.(Pro714Leu)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000007537 DNA SEQ-NG-I 1 - 47 Stevi Xera