NM_006516.4:c.1279-2A>C

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  2. NM_006516.4:c.1279-2A>C

HGVS Expressions

  • NG_008232.1:g.36934A>C
  • NM_006516.4:c.1279-2A>C

Associated Genes

Solute Carrier Family 2 (Facilitated Glucose Transporter), Member 1
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Genomic Location

chr1:42927243

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606777.1Lebanon1Likely PathogenicGLUT1 Deficiency Syndrome 1Jalkh et al. 2019
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Contributors

  • Pratibha Nair: 05.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.