NM_012233.3:c.1009C>T

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  2. NM_012233.3:c.1009C>T

HGVS Expressions

  • NG_016972.2:g.82740C>T
  • NM_012233.3:c.1009C>T
  • NP_036365.1:p.Arg337Ter
  • NC_000002.12:g.135130030C>T

Associated Genes

RAB3 GTPase-Activating Protein, Catalytic Subunit
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

766629205

Clinvar

191126

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600118.3Saudi Arabia2PathogenicWarburg Micro Syndrome 1Patel et al. 2017
600118.4Saudi Arabia2Likely PathogenicWarburg Micro Syndrome 1Patel et al. 2018
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Contributors

  • Sayeeda Hana: 22.03.2023

Edit History

  • Pratibha Nair: 04.10.2023
  • Sayeeda Hana: 24.03.2023
  • Sayeeda Hana: 22.03.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.