Ann Lab Med.  2020 Jul;40(4):345-347. 10.3343/alm.2020.40.4.345.

Identification of a Novel Splice Variant (c.423-8A>G) of APC by RNA Sequencing

• Kim A
• Kim HK
• Ahn S
• Hong YS
• Lim SB
• Byeon JS
• Chun S
• Min WK
• Lee W

• KMID: 2470335
• DOI: http://doi.org/10.3343/alm.2020.40.4.345

Abstract

No abstract available.

MeSH Terms

RNA*
Sequence Analysis, RNA*
RNA

Figure

• 

  Fig. 1 Next-generation sequencing revealed a variant of APC, involving a substitution of guanine (G) for adenine (A) at the intron located–8 from the acceptor site (c.423-8A>G).

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  Fig. 2 RNA sequencing revealed an insertion of seven base pairs between r.422 and r.423 (r.422_423ins423-7_423-1). This variant was predicted to cause a premature stop codon (p.Ser142Lysfs*2).

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