NM_002435.2:c.863C>T

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HGVS Expressions

  • NG_008921.1:g.11961C>T
  • NM_002435.2:c.863C>T
  • NP_002426.1:p.Ala288Val
  • NC_000015.10:g.74897029C>T

Associated Genes

Mannosephosphate Isomerase
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

775111649

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602579.2.1United Arab Emirates2Likely PathogenicCongenital Disorder of Glycosylation, Type IbDeeb et al, 2018
602579.2.2United Arab Emirates1Likely PathogenicDeeb et al, 2018 Mother of 602579.2.1
602579.2.3United Arab Emirates1Likely PathogenicDeeb et al, 2018 Father of 602579.2.1
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Contributors

  • Pratibha Nair: 29.01.2019

Edit History

  • Pratibha Nair: 23.08.2022
  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 29.01.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.