All variants in the APC gene


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

3 entries on 1 page. Showing entries 1 - 3.
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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.366del r.(?) p.(Phe123Leufs*2) frameshift - deletion, small - pathogenic g.112103031del g.112767334del 366delG - APC_000160 - PubMed: Friedl and Aretz 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ 6 3 c.366del r.(?) p.(Phe123Leufs*3) frameshift - deletion, small - pathogenic g.112103031del g.112767334del 366delG - APC_000160 - Aretz and Spier unpublished - - Unknown ? - - 0 - Stefan Aretz
+/+ 6 3 c.366del r.(?) p.(Phe123Leufs*2) frameshift - deletion, small - pathogenic g.112103031del g.112767334del 366delG - APC_000160 - PubMed: Lagarde et al. 2010 - - Unknown ? - - 0 - Stefan Aretz
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