NM_012064.4:c.530A>G

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HGVS Expressions

  • NG_021397.2:g.21019A>G
  • NM_012064.4:c.530A>G
  • NP_036196.1:p.Tyr177Cys
  • NC_000012.12:g.56453148T>C

Associated Genes

Major Intrinsic Protein Of Lens Fiber
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615274.1Saudi Arabia1PathogenicCataract 15, Multiple TypesPatel 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.