Variant #0000032144 (NC_000005.9:g.(?_112073556)_(112181936_?)del, APC(NM_000038.5):c.-85_*2113{0})

Individual ID 00012551
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
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 whole gene deletion
ISCN -
DB-ID APC_000200 See all 27 reported entries
Variant remarks Deletion entire APC gene
Reference PubMed: Nielsen et al. 2007a
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Carli Tops
Database submission license No license selected
Created by Stefan Aretz
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_ 1_15+promoter c.-85_*2113{0} r.0 p.0 deletion, large - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000012467 DNA MLPA leukocytes screen APC gene (index patient) APC 1 Carli Tops