NM_016346.4:c.131C>A

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  2. NM_016346.4:c.131C>A

HGVS Expressions

  • NG_009113.2:g.5941C>A
  • NM_016346.4:c.131C>T
  • NP_057430.1:p.Ser44Ter
  • NC_000015.10:g.71811495C>A

Associated Genes

Nuclear Receptor Subfamily 2, Group E, Member 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

202098481

Clinvar

1456422

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604485.1.1Saudi Arabia2PathogenicKhan et al. 2010 Proband
604485.1.2Saudi Arabia2PathogenicKhan et al. 2010 Daughter of 604485.1.1
604485.1.3Saudi Arabia2PathogenicKhan et al. 2010 Daughter of 604485.1.1
604485.1.4Saudi Arabia1PathogenicKhan et al. 2010 Asymptomatic husband and first cousin of...
604485.1.5Saudi Arabia1PathogenicKhan et al. 2010 Asymptomatic son of 604485.1.1
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Contributors

  • Sayeeda Hana: 08.06.2020

Edit History

  • Pratibha Nair: 10.11.2022
  • Rahila Mir: 17.02.2022
  • Sayeeda Hana: 09.06.2020
  • Sayeeda Hana: 08.06.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.