NM_004713.6:c.574+1G>T

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HGVS Expressions

  • NG_051075.1:g.20066G>T
  • NM_004713.6:c.574+1G>T
  • NP_004704.3:p.?
  • NC_000014.9:g.49838138C>A

Associated Genes

Nuclear Export Mediator Factor
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1892998702

Clinvar

993000

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619099.4.1Saudi Arabia2NALikely PathogenicIntellectual Developmental Disorder with Speech Delay and Axonal Peripheral NeuropathyAhmed et al. 2021 Patient from 'family 3' in the publicati...
619099.4.2Saudi Arabia1NAAhmed et al. 2021 Father of 619099.4.1
619099.4.3Saudi Arabia1NAAhmed et al. 2021 Mother of 619099.4.1
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Contributors

  • Asha Deepthi: 29.11.2022

Edit History

  • Asha Deepthi: 29.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.