NM_001379500.1:c.1733_1742del

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HGVS Expressions

  • NG_011903.1:g.86710_86719del
  • NM_001379500.1:c.1733_1742del
  • NP_001366429.1:p.Ala578GlyfsTer143
  • NC_000021.9:g.45486892_45486901del

Associated Genes

Collagen, Type XVIII, Alpha-1
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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
267750.2United Arab Emirates; Yem...2Likely PathogenicKnobloch Syndrome 1Khan and Ghazi, 2018 "Double niece" of 222448.2.6
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Contributors

  • Sayeeda Hana: 15.03.2022

Edit History

  • Pratibha Nair: 03.01.2023
  • Precise Support: 18.03.2022
  • Sayeeda Hana: 15.03.2022
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.