NM_000104.3:c.1405C>T

HGVS Expressions

  • NG_008386.2:g.10153C>T
  • NM_000104.3:c.1405C>T
  • NP_000095.2:p.Arg469Trp
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Genomic Location

chr2:38070949

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

7733

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.20Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.21Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.39Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010
231300.47Lebanon2PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
231300.G.4Saudi ArabiaPathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 2 families with PCG; 1 non-pene...
231300.G.5Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 6 families with PCG; 1 non-pene...
231300.G.11Saudi Arabia4PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 4 affected individuals
231300.G.12Saudi Arabia6PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 3 affected individuals
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