Ann Lab Med.  2021 Jan;41(1):123-125. 10.3343/alm.2021.41.1.123.

A Novel Splice Variant (c.438T>A) of APC, Suspected by Family History and Confirmed by RNA Sequencing

• Lee H
• Kim HK
• Yang DH
• Hong YS
• Lee W
• Lim SB
• Byeon JS
• Chun S
• Min WK

• KMID: 2512743
• DOI: http://doi.org/10.3343/alm.2021.41.1.123

Figure

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  Fig. 1 Schematic diagram of the transcript analysis and sequencing pattern of the control and patient PCR products. The APC c.438T>A allele leads to the formation of a new splice acceptor site, which results in the partial deletion of exon 5 (r.423_439del), causing the formation of a premature termination codon (TGA) (p.Leu143*). Abbreviation: APC, adenomatous polyposis coli.

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