NM_001079537.2:c.23T>A

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HGVS Expressions

  • NM_001079537.2:c.23T>A
  • NP_001073005.1:p.Leu8Ter

Associated Genes

Trafficking Protein Particle Complex, Subunit 6B
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Genomic Location

chr14:39170073

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617862.1.1Lebanon2NAPathogenicNeurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy Nair et al, 2019b Proband
617862.1.2Lebanon1NANair et al, 2019b Mother of proband
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Contributors

  • Asha Deepthi: 05.11.2020

Edit History

  • Asha Deepthi: 05.11.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.