NM_000104.3:c.182G>A

HGVS Expressions

  • NG_008386.2:g.5895G>A
  • NM_000104.3:c.182G>A
  • NP_000095.2:p.Gly61Glu
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Genomic Location

chr2:38075207

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

7730

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.1Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Bad prognosis
231300.1.1Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.1.2Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 Sister of 231300.1.1
231300.1.3Saudi Arabia1PathogenicKhan et al. 2011 Mother of 231300.1.1 and 231300.1.2
231300.1.4Saudi Arabia1PathogenicKhan et al. 2011 Father of 231300.1.1 and 231300.1.2
231300.1.5Saudi Arabia1PathogenicKhan et al. 2011 Sibling of 231300.1.1 and 231300.1.2
231300.2Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.3Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.4Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Bad prognosis
231300.5Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006
231300.6Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.7Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.8Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.9Kuwait2PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.11Kuwait1PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.13Saudi Arabia2PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 Stromal loss
231300.14Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.15Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.16Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.24Oman2PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.26Oman1PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.28Oman2PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.33Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.35Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication ...
231300.37Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.38Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.40Morocco1PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.41Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication
231300.42Morocco2PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.46Lebanon2PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
231300.49Lebanon2PathogenicGlaucoma 3, Primary Congenital, AAl-Haddad et al. 2016
188550.G.1LebanonLikely PathogenicThyroid Carcinoma, PapillaryFakhruddin et al. 2017 253 cases of PTC
231300.G.2Saudi ArabiaPathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 39 families with PCG; 16 non-pe...
231300.G.3Saudi ArabiaPathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 2 families with PCG; both non-p...
231300.G.4Saudi ArabiaPathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 2 families with PCG; 1 non-pene...
231300.G.10Saudi Arabia76PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 38 affected individuals
231300.G.11Saudi Arabia4PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011 4 affected individuals
231300.G.17Morocco4PathogenicGlaucoma 3, Primary Congenital, ABelmouden et al. 2002 2 affected patients
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