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     
+/+ 5 2 c.147_150del r.(?) p.(Lys49Asnfs*20) frameshift - deletion, small - pathogenic g.112102034_112102037del g.112766337_112766340del 145_148delAAAC - APC_001029 - PubMed: Rivera et al. 2010 - - Germline ? - - 0 - Stefan Aretz
+/+ 5 2 c.147_150del r.(?) p.(Lys49Asnfs*20) frameshift - deletion, small - pathogenic g.112102034_112102037del g.112766337_112766340del 145_148delAAAC - APC_001029 - PubMed: Rivera et al. 2010 - - Germline ? - - 0 - Stefan Aretz
+/+ 5 2 c.147_150del r.(?) p.(Lys49Asnfs*20) frameshift - deletion, small - pathogenic g.112102034_112102037del g.112766337_112766340del 145_148delAAAC - APC_001029 - PubMed: Gómez-Fernández et al. 2009 - - Germline ? - - 0 - Stefan Aretz
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