抄録
We report a STK11 splicing variant comprising a 131-bp insertion that is derived from intron 1, which has previously been reported to possess potent pathogenicity the same variant was detected in a Peutz-Jeghers syndrome patient harboring a genomic deletion in the vicinity of exon 1 of the STK11 gene, which indicated that this variant was derived from the wild-type allele. We also found the same variant in other normal subjects. This variant corresponds to the predicted transcript variant of STK11 (XM-011528209), which is derived from the genomic sequence of Chr19 (NT-011295.12). Therefore, we concluded that the splicing variant was not pathogenic.
本文言語 | English |
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論文番号 | 16002 |
ジャーナル | Human Genome Variation |
巻 | 3 |
DOI | |
出版ステータス | Published - 2016 3 3 |
ASJC Scopus subject areas
- Biochemistry
- Molecular Biology
- Genetics