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.
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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     
+/. _1_18_ - c.-85_*2113{0} r.0? p.0? - - - - pathogenic g.(?_112073556)_(112181936_?)del g.(?_112737859)_(112846239_?)del del whole gene - APC_000200 - PubMed: Moreno-Cabrera 2021 - - Germline/De novo (untested) - - - 0 - Johan den Dunnen
+?/. _1_18_ - c.-85_*2113{0} r.0? p.0? deletion, large - deletion, large ACMG pathogenic (dominant) g.(?_108472791)_(112862532_?)del - c.-3600850_*682709del - APC_000200 larger genomic deletion (~4.4Mb) spanning 18 genes; son has the same deletion - - - Germline - - - 0 - Andreas Laner
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