NM_004273.5:c.776T>C

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  2. NM_004273.5:c.776T>C

HGVS Expressions

  • NG_012635.1:g.48446T>C
  • NM_004273.5:c.776T>C
  • NP_004264.2:p.Leu259Pro

Associated Genes

Carbohydrate Sulfotransferase 3
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Genomic Location

chr10:72007807

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

dbSNP

121908616

Clinvar

6041

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.16Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
143095.3.17Lebanon2PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
143095.6Syria2Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsNizon et al. 2012
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Contributors

  • Sayeeda Hana: 24.09.2019

Edit History

  • Pratibha Nair: 06.07.2022
  • Sayeeda Hana: 29.09.2019
  • Sayeeda Hana: 24.09.2019
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.