NM_030630.3:c.1598T>C

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HGVS Expressions

  • NM_030630.3:c.1598T>C
  • NP_085133.1:p.Leu533Pro
  • NC_000017.11:g.74955830A>G

Associated Genes

HID1 Domain-Containing Protein 1
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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
619983.2.1Tunisia1NALikely PathogenicDevelopmental and Epileptic Encephalopathy 105 with HypopituitarismSchänzer et al. 2021 Patient from 'family 2' in the publicati...
619983.2.2Tunisia1NASchänzer et al. 2021 Father of 619983.2.1
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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.