NM_001368894.2:c.76C>T

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HGVS Expressions

  • NG_008679.1:g.20193C>T
  • NM_001368894.2:c.76C>T
  • NP_001355823.1:p.Arg26Trp
  • NC_000011.10:g.31802769G>A

Associated Genes

Paired Box Gene 6
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

121907913

Clinvar

800389

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
106210.1Saudi Arabia1PathogenicAniridiaPatel et al. 2017
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Contributors

  • Sayeeda Hana: 08.03.2023

Edit History

  • Sayeeda Hana: 08.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.