NM_000081.4:c.6159_6160del

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  2. NM_000081.4:c.6159_6160del

HGVS Expressions

  • NM_000081.4:c.6159_6160del
  • NP_000072.2:p.Met2053IlefsTer31
  • NC_000001.11:g.235762814_235762815del

Associated Genes

Lysosomal Trafficking Regulator
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
214500.1United Arab Emirates2Likely PathogenicChediak-Higashi SyndromeHelmi et al. 2017 proband. Mother had gestational diabetes
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Contributors

  • Sami Bizzari: 22.03.2022

Edit History

  • Sami Bizzari: 22.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.