All variants in the APC gene


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

51 entries on 1 page. Showing entries 1 - 51.
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     
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Vogt and Aretz (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Mandl et al. 1996 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Friedl et al. 2001 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Friedl et al. 2001 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.63806-?_141606+?del - APC_000532 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Aretz et al. 2005 - - De novo ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - PubMed: Aretz et al. 2005 - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.35041-?_141606+?del - APC_000531 - Aretz and Friedl (unpublished) - - Unknown ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.26940-?_133343+?del - APC_000531 - PubMed: Kanter-Smoler et al. 2008 - - Germline ? - - 0 - Stefan Aretz
+/+ _1i_18_ _1_15_ c.(?_-18-1)_(*1_?)del r.0 p.0 deletion, large - deletion, large - pathogenic g.(?_112090569)_(112179824_?)del - g.52371-?_141606+?del - APC_000532 - PubMed: Gómez-Fernández et al. 2009 - - De novo ? - - 0 - Stefan Aretz
Legend   How to query