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Fig. 2 | BMC Medical Genomics

Fig. 2

From: Re-analysis of whole-exome sequencing data reveals a novel splicing variant in the SLC2A1 in a patient with GLUT1 Deficiency Syndrome 1 accompanied by hemangioma: a case report

Fig. 2

Schematic representation of SLC2A1 mRNA transcript (NM_6516.4) and IGV visualization of the variant. a SLC2A1 gene has 10 exons that encode GLUT1 composed of 492 amino acids. b The patient has variant c.275 + 1 in the heterozygous state. There are 128 reads for reference base c and 115 deletions at the position of 43,396,716 in the IGV visualization

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BMC Medical Genomics

ISSN: 1755-8794

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