NM_000104.3:c.1168C>A

HGVS Expressions

  • NG_008386.2:g.9916C>A
  • NM_000104.3:c.1168C>A
  • NP_000095.2:p.Arg390Ser
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Genomic Location

chr2:38071186

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

335952

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.36Morocco2Likely PathogenicGlaucoma 3, Primary Congenital, AHilal et al. 2010 Bad prognosis
231300.G.8Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 One affected family
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