NM_138425.4:c.152T>A

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HGVS Expressions

  • NG_034262.1:g.5759T>A
  • NM_138425.4:c.152T>A
  • NP_612434.1:p.Leu51Gln
  • NC_000012.12:g.6944575T>A

Associated Genes

Chromosome 12 Open Reading Frame 57
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

587776955

Clinvar

41943

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
218340.14.1Saudi Arabia1PathogenicTemtamy SyndromeZahrani et al. 2013; Patel et al. 2018 Parents belong to the same tribe
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Contributors

  • Pratibha Nair: 15.09.2022

Edit History

  • Pratibha Nair: 15.09.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.