NM_013335.4:c.922G>A

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  2. NM_013335.4:c.922G>A

HGVS Expressions

  • NG_033833.1:g.12137G>A
  • NM_013335.4:c.922G>A
  • NP_037467.2:p.Gly308Arg
  • NC_000002.12:g.219506001G>A

Associated Genes

GDP-Mannose Pyrophosphorylase A
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

770069936

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615510.1United Arab Emirates2Likely PathogenicAlacrima, Achalasia, and Mental Retardation SyndromeAlabdullatif et al. 2017
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Contributors

  • Pratibha Nair: 23.06.2022

Edit History

  • Pratibha Nair: 23.06.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.