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     
+/+ 4 1 c.70C>T r.(?) p.(Arg24*) nonsense - substitution - pathogenic g.112090657C>T g.112754960C>T - - APC_000551 - PubMed: Kanter-Smoler et al. 2008 - - Unknown ? - - 0 - Stefan Aretz
+/. - - c.70C>T r.(?) p.(Arg24Ter) - - - - pathogenic g.112090657C>T g.112754960C>T - - APC_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
Legend   How to query