Variant #0000033477 (NC_000005.9:g.(?_112073556)_(112157689_112162804)del, APC(NM_000038.5):c.-85_(1408+1_1409-1){0})

Individual ID 00013884
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)_(112157689_112162804)del
DNA change (hg38) -
Published as g.35041-?_119471+?del
ISCN -
DB-ID APC_000529 See all 3 reported entries
Variant remarks -
Reference PubMed: Aretz et al. 2005
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Stefan Aretz
Database submission license No license selected
Created by Stefan Aretz
Date created 2011-11-30 15:31:34 +01:00 (CET)
Date last edited 2022-04-14 09:18:07 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
APC NM_000038.5 +/+ _1_13i 1_10i+promoter c.-85_(1408+1_1409-1){0} r.0 p.0 deletion, large deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000013800 DNA SEQ leukocytes screen APC gene (index patient) APC 1 Stefan Aretz