NM_005630.2:c.838C>T

HGVS Expressions

  • NG_031964.2:g.105954C>T
  • NM_005630.2:c.838C>T
  • NP_005621.2:p.Arg280Ter
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Genomic Location

chr3:133951231

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601460.1.1Lebanon2PathogenicHypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Saadeh et al, 2015
601460.1.2Lebanon2PathogenicHypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 Saadeh et al, 2015 Sibling of 601460.1.1
601460.1.3Lebanon2PathogenicSaadeh et al, 2015 Unaffected mother of 601460.1.1
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