NM_001844.4:c.2050G>C

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HGVS Expressions

  • NG_008072.1:g.26366G>C
  • NM_001844.4:c.2050G>C
  • NP_001835.3:p.Gly684Arg
  • NC_000012.12:g.47983137C>G

Associated Genes

Collagen, Type II, Alpha-1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

1231988113

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
183900.G.1Lebanon3Likely PathogenicSpondyloepiphyseal Dysplasia CongenitaTerhal et al. 2012 Group of 3 patients
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Contributors

  • Pratibha Nair: 05.07.2021

Edit History

  • Rahila Mir: 10.02.2022
  • Pratibha Nair: 05.07.2021
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.