Genomic variant #0000038328

Individual ID 00019794
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.112136976_112136977del
Reference -
DB-ID APC_000152
dbSNP ID rs387906228
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.730_731del r.(?) p.(Arg244Valfs*7)
APC NM_001127510.2 +/+ - c.730_731del r.(?) p.(Arg244Valfs*7)
APC NM_001127511.2 +/+ - c.676_677del r.(?) p.(Arg226Valfs*7)



Screenings


AscendingScreening ID     

Template     

Technique     

Type     

Genes screened     

Variants found     

Owner     
0000006154 DNA SEQ 1 APC 1 Despoina Kalfakakou