Variant #0000031368 (NC_000005.9:g.112111372dup, APC(NM_000038.5):c.469dup)

Individual ID 00011775
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.112111372dup
DNA change (hg38) g.112775675dup
Published as 487insT
ISCN -
DB-ID APC_000746 See all 8 reported entries
Variant remarks -
Reference PubMed: Walon et al. 1997
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
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 +/+ 7 4 c.469dup r.(?) p.(Trp157Leufs*11) frameshift - duplication, small



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000011691 DNA RT-PCR;PTT;SSCA;SEQ ? test known APC variant (relative) APC 1 Stefan Aretz