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     
+/. 6i - c.422+2T>C r.spl? p.? - - substitution - pathogenic g.112103089T>C g.112767392T>C - - APC_001269 cDNA: Skipping Exon6 - - - Germline - - - 0 - Andreas Laner
+/. - - c.422+2T>C r.(?) p.? - - - ACMG pathogenic g.112103089T>C g.112767392T>C - - APC_001269 ACMG grading: PVS1,PM2,PP5; polyposis coli at age 31y, no information about family history available / Kerr ; 2013. J Mol Diagn 15: 31 describes variant c.422+2T>G ( not T>C) - - rs879254169 Germline - - - 0 - Andreas Laner
+/. - - c.422+2T>C r.(?) p.? - - - ACMG pathogenic g.112103089T>C g.112767392T>C - - APC_001269 ACMG grading: PVS1,PM2,PP5; synchronous CRC at age 50y, IHC and MSA regarding HNPCC Dx negative / Kerr ; 2013. J Mol Diagn 15: 31 describes c.422+2T>G (not T>C) as pathogenic - - rs879254169 Germline - - - 0 - Andreas Laner
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