NM_030630.3:c.2318dup

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HGVS Expressions

  • NM_030630.3:c.2318dup
  • NP_085133.1:p.Val774CysfsTer11
  • NC_000017.11:g.74951624dup

Associated Genes

HID1 Domain-Containing Protein 1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

1700642

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
619983.1.1Saudi Arabia2NAPathogenicDevelopmental and Epileptic Encephalopathy 105 with HypopituitarismMonies et al. 2017; Schänzer et al. 2021 Patient from 'family 3' in Schänzer et a...
619983.1.2Saudi Arabia1NASchänzer et al. 2021 Father of 619983.1.1
619983.1.3Saudi Arabia1NASchänzer et al. 2021 Mother of 619983.1.1
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Contributors

  • Asha Deepthi: 11.11.2022

Edit History

  • Asha Deepthi: 11.11.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.