NM_004273.5:c.501C>A

HGVS Expressions

  • NG_012635.1:g.48171C>G
  • NM_004273.5:c.501C>A
  • NP_004264.2:p.His167Gln
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Genomic Location

chr10:72007532

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
143095.3.05Lebanon1Likely PathogenicSpondyloepiphyseal Dysplasia with Congenital Joint DislocationsUnger et al. 2010
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