NM_000104.3:c.1103G>A

HGVS Expressions

  • NG_008386.2:g.9851G>A
  • NM_000104.3:c.1103G>A
  • NP_000095.2:p.Arg368His
  • NC_000002.12:g.38071251C>T
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Clinvar Clinical Significance

Benign, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

7739

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.10Kuwait1Likely PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.14Saudi Arabia1Likely PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
231300.22Oman2Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.26Oman1Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.29Oman2Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.32Morocco1Likely PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 No response to surgery and medication
231300.G.7Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 One affected family; non-penetrant
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