All variants in the APC gene


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

5 entries on 1 page. Showing entries 1 - 5.
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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.419_422del r.(?) p.(Glu140Glyfs*28) frameshift - deletion, small - pathogenic g.112103084_112103087del g.112767387_112767390del 419_422delAGAG - APC_000393 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.419_422del r.(?) p.(Glu140Glyfs*28) frameshift - deletion, small - pathogenic g.112103084_112103087del g.112767387_112767390del 419_422delAGAG - APC_000393 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ 6 3 c.419_422del r.(?) p.(Glu140Glyfs*28) frameshift - deletion, small - pathogenic g.112103084_112103087del g.112767387_112767390del 419_422delAGAG - APC_000393 - PubMed: Rivera et al. 2010 - - De novo ? - - 0 - Stefan Aretz
+/+ 6 3 c.419_422del r.(?) p.(Glu140Glyfs*28) frameshift - deletion, small - pathogenic g.112103084_112103087del g.112767387_112767390del 419del4, -AGAG - APC_000393 - PubMed: Gismondi et al. 1997 - - Unknown ? - - 0 - Stefan Aretz
+/+ 6 3 c.419_422del r.(?) p.(Glu140Glyfs*28) frameshift - deletion, small - pathogenic g.112103084_112103087del g.112767387_112767390del 419_422delAGAG - APC_000393 - PubMed: Lagarde et al. 2010 - - Unknown ? - - 0 - Stefan Aretz
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