NM_004273.5:c.481C>T

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  2. NM_004273.5:c.481C>T

HGVS Expressions

  • NG_012635.1:g.48151C>T
  • NM_004273.5:c.481C>T
  • NP_004264.2:p.Leu161Phe

Associated Genes

Carbohydrate Sulfotransferase 3
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Genomic Location

chr10:72007512

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

267606733

Clinvar

6050

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.04Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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Contributors

  • Sayeeda Hana: 24.09.2019

Edit History

  • Sayeeda Hana: 25.09.2019
  • Sayeeda Hana: 24.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.