NM_001099922.3:c.3221A>G

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  2. NM_001099922.3:c.3221A>G

HGVS Expressions

  • NG_016238.1:g.83689A>G
  • NM_001099922.3:c.3221A>G
  • NP_001093392.1:p.Tyr1074Cys
  • NC_000023.11:g.111759806A>G

Associated Genes

ALG13 UDP-N-Acetylglucosaminyltransferase Subunit
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Clinvar Clinical Significance

Benign, Likely Benign

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

372990620

Clinvar

381527

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
309530.1.1Arab1Bissar-Tadmouri et al. 2014 Mother of 309530.1.G
309530.1.GArab4Likely PathogenicIntellectual Developmental Disorder, X-Linked 1Bissar-Tadmouri et al. 2014 Family with 4 affected male siblings
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Contributors

  • Pratibha Nair: 06.07.2022

Edit History

  • Pratibha Nair: 06.07.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.