Genomic variant #0000038284

Individual ID 00019703
Chromosome 5
Allele Maternal (confirmed)
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.112174493_112174496del
Reference -
DB-ID APC_000145 See all 4 reported entries
dbSNP ID -
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 0.00017
Allele Count 1
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.3202_3205del r.(?) p.(Ser1068Glyfs*57)
APC NM_001127510.2 +/+ - c.3202_3205del r.(?) p.(Ser1068Glyfs*57)
APC NM_001127511.2 +/+ - c.3148_3151del r.(?) p.(Ser1050Glyfs*57)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006076 DNA SEQ 0 APC 1 Despoina Kalfakakou