NM_001199835.1:c.112-1G>C

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HGVS Expressions

  • NG_033902.1:g.77640G>C
  • NP_001186764.1:p.?
  • NC_000007.14:g.26364534G>C

Associated Genes

Sorting Nexin 10
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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
615085.2United Arab Emirates2Likely PathogenicOsteopetrosis, Autosomal Recessive 8Al-Shamsi et al. 2016
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Contributors

  • Pratibha Nair: 21.07.2020

Edit History

  • Pratibha Nair: 03.01.2023
  • Pratibha Nair: 29.11.2022
  • Pratibha Nair: 23.08.2022
  • Asha Deepthi: 17.02.2022
  • Rahila Mir: 17.02.2022
  • Pratibha Nair: 21.07.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.