NM_022166.3:c.2169dup

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HGVS Expressions

  • NG_015843.1:g.348162dup
  • NM_022166.3:c.2169dup
  • NP_071449.1:p.Val724SerfsTer10
  • NC_000016.10:g.17127725dup

Associated Genes

Xylosyltransferase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615777.1United Arab Emirates2Likely PathogenicDesbuquois Dysplasia 2Al-Jezawi et al. 2017 Patient had a stillborn sibling with a s...
615777.1.2United Arab Emirates1Al-Jezawi et al. 2017 Father of 615777.1.1
615777.1.3United Arab Emirates1Al-Jezawi et al. 2017 Mother of 615777.1.1
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Contributors

  • Sayeeda Hana: 19.05.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Sayeeda Hana: 19.05.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.