NM_012293.3:c.1018+1G>A

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HGVS Expressions

  • NG_034221.1:g.75906G>A
  • NM_012293.3:c.1018+1G>A
  • NP_036425.1:p.?
  • NC_000002.12:g.1673642C>T

Associated Genes

Peroxidasin
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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
269400.1Saudi Arabia2PathogenicAnterior Segment Dysgenesis 7Patel et al. 2017
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Contributors

  • Sayeeda Hana: 09.03.2023

Edit History

  • Sayeeda Hana: 09.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.