NM_145649.5:c.1025A>G

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  2. NM_145649.5:c.1025A>G

HGVS Expressions

  • NG_007469.3:g.139201A>G
  • NM_145649.5:c.1025A>G
  • NP_663624.1:p.Tyr342Cys
  • NC_000006.12:g.10626423A>G

Associated Genes

Glucosaminyl (N-Acetyl) Transferase 2, I-Branching Enzyme
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

786205577

Clinvar

191204

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
116700.2Saudi Arabia2PathogenicCataract 13 With Adult i PhenotypePatel et al. 2017
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Contributors

  • Sayeeda Hana: 16.03.2023

Edit History

  • Sayeeda Hana: 16.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.