NM_003880.3:c.536_537del

HGVS Expressions

  • NG_011748.1:g.15870_15871del
  • NM_003880.3:c.536_537del
  • NP_003871.1:p.Cys179Ter
  • NC_000006.12:g.112064944_112064945del
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.G.1.6Syria2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 2 siblings from 'Family 9' in the public...
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