All variants in the APC gene


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

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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     
./. - - c.? r.? p.? - - - - likely pathogenic (dominant) g.(?_111651970)_(111756460_?)del - g.111651970-111756460del - APC_001953 detected in microarray upstream of APC locus; further evaluation by Sanger-Seq, RT-PCR, Bionano and ONT confirmed a complex 4 Mb rearrangement involving 12 fragments from chromosome 5q22.1q22.2 which inserted into chromosome 10q21.3 in a seemingly random order and orientation thus fulfilling the major criteria of a rare germline chromothripsis event. The rearrangement separates APC promoter 1B from the coding ORF thus leading to allele-specific downregulation of APC mRNA Scharf 2021 submitted - - Germline ? - - 0 - Andreas Laner
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