NM_024740.2:c.694G>C

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HGVS Expressions

  • NG_009210.1:g.18973G>C
  • NM_024740.2:c.694G>C
  • NP_079016.2:p.Ala232Pro
  • NC_000011.10:g.111857609C>G

Associated Genes

ALG9, S. Cerevisiae, Homolog of
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Clinvar Clinical Significance

Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

36111204

Clinvar

96135

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
608776.1United Arab Emirates2Likely PathogenicCongenital Disorder of Glycosylation, Type Il Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 08.07.2020

Edit History

  • Sayeeda Hana: 27.11.2022
  • Pratibha Nair: 23.08.2022
  • Pratibha Nair: 08.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.