Genomic variant #0000038410

Individual ID 00020059
Chromosome 5
Allele Parent #2
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112163697dupA
Reference -
DB-ID APC_000162
dbSNP ID rs1131691555
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 Variant not found in online data sets
Allele Count 0
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.1620dupA r.(?) p.(Gln541Thrfs*19)
APC NM_001127510.2 +/+ - c.1620dupA r.(?) p.(Gln541Thrfs*19)
APC NM_001127511.2 +/+ - c.1566dupA r.(?) p.(Gln523Thrfs*19)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006318 DNA SEQ 0 APC 1 Despoina Kalfakakou