Genomic variant #0000031419

Individual ID 00011826
Chromosome 5
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.(112073623_112090569)_(112090723_112102022)del
DNA change (hg38) -
Published as exon 4 deletion
ISCN -
DB-ID APC_000534 See all 55 reported entries
Variant remarks -
Reference PubMed: Soravia et al. 1998
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 +/+ 3i_4i 4 c.(-19+1_-18-1)_(135+1_136-1)del pathogenic r.? p.0? deletion, large - deletion, large



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011742 DNA RT-PCR;PTT;SEQ ? test known APC variant (relative) APC 1 Stefan Aretz