NM_004273.5:c.665G>T

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  2. NM_004273.5:c.665G>T

HGVS Expressions

  • NG_012635.1:g.48335G>T
  • NM_004273.5:c.665G>T
  • NP_004264.2:p.Arg222Leu
  • NC_000010.11:g.72007696G>T

Associated Genes

Carbohydrate Sulfotransferase 3
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1437776489

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.4Saudi Arabia2NALikely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsMaddirevula et al. 2018
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Contributors

  • Asha Deepthi: 01.11.2021

Edit History

  • Rahila Mir: 09.02.2022
  • Asha Deepthi: 01.11.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.