Genomic variant #0000023705

Individual ID 00017386
Chromosome 5
Allele Parent #2
Affects function (as reported) Probably does not affect function
Affects function (by curator) Probably does not affect function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112174751_112174753del
Reference -
DB-ID APC_000028 See all 2 reported entries
dbSNP ID rs567584401
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.3460_3462del r.(?) p.(Glu1157del)
APC NM_001127510.2 -?/-? - c.3460_3462del r.(?) p.(Glu1157del)
APC NM_001127511.2 -?/-? - c.3406_3408del r.(?) p.(Glu1139del)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000001051 DNA SEQ-NG-I 1 - 11 Despoina Kalfakakou