NM_000303.3:c.422G>A

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  2. NM_000303.3:c.422G>A

HGVS Expressions

  • NG_009209.1:g.18341G>A
  • NM_000303.3:c.422G>A
  • NP_000294.1:p.Arg141His

Associated Genes

Phosphomannomutase 2
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Genomic Location

chr16:8811153

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

28936415

Clinvar

7706

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212065.1Lebanon1PathogenicCongenital Disorder of Glycosylation, Type IaJalkh et al. 2019
212065.2Lebanon1Likely PathogenicCongenital Disorder of Glycosylation, Type IaBastaki et al. 2018
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Contributors

  • Pratibha Nair: 18.11.2020

Edit History

  • Sayeeda Hana: 19.05.2021
  • Pratibha Nair: 18.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.