NM_024876.4:c.929C>T

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  2. NM_024876.4:c.929C>T

HGVS Expressions

  • NG_027800.1:g.21470C>T
  • NM_024876.4:c.929C>T
  • NP_079152.3:p.Pro310Leu

Associated Genes

Coenzyme Q8B
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Genomic Location

chr19:40700416

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
615573.7.1Arab2PathogenicNephrotic Syndrome, Type 9Korkmaz et al, 2016
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Contributors

  • Sayeeda Hana: 15.04.2020

Edit History

  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 09.03.2021
  • Sayeeda Hana: 17.04.2020
  • Sayeeda Hana: 15.04.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.