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Table. 2.

Table. 2.

NF1 variants causing aberrant transcripts

No ID Class variant AA change Location Test methods
1 L003 LP r.100_204del p.Val34_Met68del Exon 2 Sanger
2 L004 LP c.205-13T > G p.Arg69_Gly96del Intron 2 Sanger
3 L018 LP r.1063_1185del Splicing defect Intron 9 Sanger, MLPA
4 L067 LP r.4725_4835del p.His1576_Arg1612del Exon 36 Sanger, MLPA
5 V002 VUS r.1642_1845del204 Splicing defect Exon 15-16 Sanger, MLPA
6 V013 VUS c.6642+31T > G Splicing defect Intron 43 Sanger, MLPA

Abbreviations: AA, amino acid; LP, likely pathogenic; VUS, variant of unknown significance; Sanger, Sanger sequencing; MLPA, multiplex ligation-dependent probe amplification.

Lab Med Online 2021;11:17~24 https://doi.org/10.47429/lmo.2021.11.1.17
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