Variant #0000223771 (NC_000005.9:g.(?_112073556)_(112181936_?)del, APC(NM_000038.5):c.-85_*2113{0})

Individual ID 00133259
Chromosome 5
Allele Maternal (inferred)
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_112073556)_(112181936_?)del
DNA change (hg38) g.(?_112737859)_(112846239_?)del
Published as -
ISCN -
DB-ID APC_000200 See all 27 reported entries
Variant remarks -
Reference -
ClinVar ID -
dbSNP ID -
Origin Germline/De novo (untested)
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Grigorij Yanus
Database submission license No license selected
Created by Grigorij Yanus
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/. _1_18_ _15+promoter c.-85_*2113{0} r.0 p.0 deletion, large 0.000 deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000134093 DNA MCA;MLPA;PCR;SEQ Blood screen APC gene (index patient) APC 1 Grigorij Yanus