NM_003880.3:c.589G>C

HGVS Expressions

  • NG_011748.1:g.15923G>C
  • NM_003880.3:c.589G>C
  • NP_003871.1:p.Ala197Pro
  • NC_000006.12:g.112064997G>C
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

637051

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208230.G.1.1Syria2NAUncertain SignificanceProgressive Pseudorheumatoid DysplasiaDelague et al. 2005 3 siblings from 'Family 1' in the public...
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