NM_001199835.1:c.425_426del

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HGVS Expressions

  • NG_033902.1:g.85040_85041del
  • NM_001199835.1:c.425_426del
  • NP_001186764.1:p.Val142GlyfsTer12
  • NC_000007.14:g.26371934_26371935del

Associated Genes

Sorting Nexin 10
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615085.3Saudi Arabia2NAUncertain SignificanceOsteopetrosis, Autosomal Recessive 8Maddirevula et al. 2018
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Contributors

  • Asha Deepthi: 17.02.2022

Edit History

  • Asha Deepthi: 17.02.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.