All variants in the APC gene


Information The variants shown are described using the NM_000038.5 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/+ 6 3 c.416_419del r.(?) p.(Lys139Glufs*7) frameshift - deletion, small - pathogenic g.112103081_112103084del g.112767384_112767387del 416_419delAAGA - APC_000168 - PubMed: Friedl and Aretz 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ 6 3 c.416_419del r.(?) p.(Lys139Argfs*30) frameshift - deletion, small - pathogenic g.112103081_112103084del g.112767384_112767387del 416_419delAAGA - APC_000168 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - 0 - Stefan Aretz
Legend   How to query