Genomic variant #0000041101

Individual ID 00020071
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.(?_112073556)_(112181936_?)del
Reference -
DB-ID APC_000172 See all 7 reported entries
dbSNP ID -
Variant remarks Deletion extending 5' and 3' of a transcript (breakpoints not sequenced). According to HGVS it is recommended to describe it only using genomic coordinates.
Genetic origin Germline
Segregation -
Also Known As APC whole gene deletion
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.(?) r.(?) p.(?)
APC NM_001127510.2 +/+ - c.(?) r.(?) p.(?)
APC NM_001127511.2 +/+ - c.(?) r.(?) p.(?)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006324 DNA MLPA 1 APC 1 Despoina Kalfakakou