Genomic variant #0000038406

Individual ID 00020046
Chromosome 5
Allele Paternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112174474_112174478del
Reference Fostira et al (2010)
DB-ID APC_000161 See all 4 reported entries
dbSNP ID rs587779352
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 0.00034
Allele Count 2
Allele Number 5872
Owner Despoina Kalfakakou
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
APC NM_000038.5 +/+ - c.3183_3187del r.(?) p.(Gln1062*)
APC NM_001127510.2 +/+ - c.3183_3187del r.(?) p.(Gln1062*)
APC NM_001127511.2 +/+ - c.3129_3133del r.(?) p.(Gln1044*)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006311 DNA SEQ 0 APC 1 Despoina Kalfakakou