NM_000303.3:c.127G>A

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  2. NM_000303.3:c.127G>A

HGVS Expressions

  • NG_009209.1:g.9047G>A
  • NM_000303.3:c.127G>A
  • NP_000294.1:p.Val43Met
  • NC_000016.10:g.8801859G>A

Associated Genes

Phosphomannomutase 2
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

376754460

Clinvar

495321

Epidemiology in the Arab World

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

  • Sayeeda Hana: 31.03.2021

Edit History

  • Pratibha Nair: 09.11.2022
  • Sayeeda Hana: 19.05.2021
  • Sayeeda Hana: 31.03.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.