NM_004273.5:c.1285C>T

HGVS Expressions

  • NG_012635.1:g.48955C>T
  • NM_004273.5:c.1285C>T
  • NP_004264.2:p.Arg429Cys
  • NC_000010.11:g.72008316C>T
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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
143095.3.24Lebanon2Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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