NM_000240.4:c.1078C>T

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HGVS Expressions

  • NG_008957.2:g.85094C>T
  • NM_000240.4:c.1078C>T
  • NP_000231.1:p.Arg360Ter

Associated Genes

Monoamine Oxidase A
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Genomic Location

chrX:43736254

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300615.1Lebanon1Likely PathogenicBrunner SyndromeJalkh et al. 2019
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Contributors

  • Pratibha Nair: 10.11.2020

Edit History

  • Rahila Mir: 14.02.2022
  • Pratibha Nair: 10.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.