NM_004273.5:c.1148G>C

HGVS Expressions

  • NG_012635.1:g.48818G>C
  • NM_004273.5:c.1148G>C
  • NP_004264.2:p.Arg383Pro
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Genomic Location

chr10:72008179

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
143095.3.20Lebanon1Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
143095.3.21Lebanon1Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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