HGVS Expressions

  • NG_008961.1:g.30691C>T
  • NM_006031.5:c.1336C>T
  • NP_006022.3:p.Gln446Ter
  • NC_000021.9:g.46349812C>T

Associated Genes

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Variant Type


Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
210720.3.1Oman2NAUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIRauch et al. 2008 Patient 'P10' in the publication
210720.3.2Oman1NARauch et al. 2008 Father of 210720.3.1
210720.3.3Oman1NARauch et al. 2008 Mother of 210720.3.1
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