NM_006031.5:c.1042G>T

HGVS Expressions

  • NG_008961.1:g.29900G>T
  • NM_006031.5:c.1042G>T
  • NP_006022.3:p.Glu348Ter
  • NC_000021.9:g.46349021G>T

Associated Genes

Pericentrin
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
210720.1.1Iraq2NAUncertain SignificanceMicrocephalic Osteodysplastic Primordial Dwarfism, Type IIRauch et al. 2008 Patient 'P16' in the publication
210720.1.2Iraq1NARauch et al. 2008 Father of 210720.1.1
210720.1.3Iraq1NARauch et al. 2008 Mother of 210720.1.1
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