NM_001204077.2:c.631C>T

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HGVS Expressions

  • NG_047106.1:g.17996C>T
  • NM_001204077.2:c.631C>T
  • NP_001191006.1:p.Arg211Ter
  • NC_000011.10:g.118372576C>T

Associated Genes

Ubiquitination Factor E4A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

748926976

Clinvar

1326860

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619639.2.1Iraq2NAPathogenicNeurodevelopmental Disorder with Hypotonia and Gross Motor and Speech DelayMelo et al. 2021 Patient from 'family D' in the publicati...
619639.2.2Iraq1NAMelo et al. 2021 Father of 619639.2.1
619639.2.3Iraq1NAMelo et al. 2021 Mother of 619639.2.1
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Contributors

  • Asha Deepthi: 19.01.2023

Edit History

  • Asha Deepthi: 19.01.2023
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.