Full data view for gene APC


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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

Exon_old     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Predict/PolyPhenScore     

Type/DNA     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/+ 4 1 c.70C>T r.(?) p.(Arg24*) nonsense - substitution Unknown - pathogenic g.112090657C>T g.112754960C>T - - APC_000551 - PubMed: Kanter-Smoler et al. 2008 - - Unknown ? - - 0 - DNA SEQ leukocytes screen APC gene (index patient) FAP-1 - Sweden, Gothenburg, Department of Molecular and Clinical Genetics, University of Gothenburg - - - Sweden - - - no (pedigree) - 1 Stefan Aretz
+/. - - c.70C>T r.(?) p.(Arg24Ter) - - - Unknown - pathogenic g.112090657C>T g.112754960C>T - - APC_000551 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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