NM_004713.6:c.2608C>T

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HGVS Expressions

  • NG_051075.1:g.62402C>T
  • NM_004713.6:c.2608C>T
  • NP_004704.3:p.Arg870Ter
  • NC_000014.9:g.49795802G>A

Associated Genes

Nuclear Export Mediator Factor
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

766931948

Clinvar

986400

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.1.1Syria2NAPathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyMartin et al. 2020 Patient from 'family AUS1' in the public...
619099.1.2Syria1NAMartin et al. 2020 Father of 619099.1.1
619099.1.3Syria1NAMartin et al. 2020 Mother of 619099.1.1
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Contributors

  • Asha Deepthi: 23.11.2022

Edit History

  • Asha Deepthi: 23.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.