Genomic variant #0000034312

Individual ID 00014719
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(?_112073556)_(112179824_?)del
DNA change (hg38) -
Published as (?_30)_(*220_?)del whole allele
ISCN -
DB-ID APC_000200 See all 25 reported entries
Variant remarks -
Reference PubMed: Gómez-Fernández et al. 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) Variant not found in online data sets
Owner Stefan Aretz




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

Exon_old     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     
APC NM_000038.5 +/+ P_1_18_ 1_15+promoter c.(?_-85)_(*1_?)del pathogenic r.0 p.0 deletion, large - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000014635 DNA SSCA;SEQ - screen APC gene (index patient) APC 1 Stefan Aretz