NM_001319138.2:c.1285T>C

HGVS Expressions

  • NG_008076.3:g.25617T>C
  • NM_001319138.1:c.1285T>C
  • NP_001306067.1:p.Cys429Arg
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Genomic Location

chr20:35434130

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
200700.1.1Saudi Arabia2PathogenicChondrodysplasia, Grebe TypeFaiyaz-Ul-Haque et al. 2008
200700.1.2Saudi Arabia2PathogenicChondrodysplasia, Grebe TypeFaiyaz-Ul-Haque et al. 2008 Brother of 200700.1.1
200700.1.3Saudi Arabia2PathogenicChondrodysplasia, Grebe TypeFaiyaz-Ul-Haque et al. 2008 Double first-cousin of 200700.1.1
207000.1.4Saudi Arabia1Faiyaz-Ul-Haque et al. 2008 Unaffected father of 200700.1.1
207000.1.5Saudi Arabia1Faiyaz-Ul-Haque et al. 2008 Unaffected mother of 200700.1.1
207000.1.7Saudi Arabia1Faiyaz-Ul-Haque et al. 2008 Unaffected mother of 200700.1.3
207100.1.6Saudi Arabia1Faiyaz-Ul-Haque et al. 2008 Unaffected father of 200700.1.3
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