NM_004273.5:c.1114G>A

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  2. NM_004273.5:c.1114G>A

HGVS Expressions

  • NG_012635.1:g.48784G>A
  • NM_004273.5:c.1114G>A
  • NP_004264.2:p.Glu372Lys
  • NC_000010.11:g.72008145G>A

Associated Genes

Carbohydrate Sulfotransferase 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

267606734

Clinvar

6042

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.23Lebanon1Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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Contributors

  • Sayeeda Hana: 24.09.2019

Edit History

  • Pratibha Nair: 22.11.2022
  • Sayeeda Hana: 30.09.2019
  • Sayeeda Hana: 24.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.