NM_000303.3:c.385G>A

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  2. NM_000303.3:c.385G>A

HGVS Expressions

  • NG_009209.1:g.18304G>A
  • NM_000303.3:c.385G>A
  • NP_000294.1:p.Val129Met

Associated Genes

Phosphomannomutase 2
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Genomic Location

chr16:8811116

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

104894525

Clinvar

7708

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
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Contributors

  • Pratibha Nair: 18.11.2020

Edit History

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