NM_000104.3:c.1120G>A

HGVS Expressions

  • NG_008386.2:g.9868G>A
  • NM_000104.3:c.1120G>A
  • NP_000095.2:p.Asp374Asn
  • NC_000002.12:g.38071234C>T
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Clinvar Clinical Significance

Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

7734

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.23Oman2Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.27Oman2Likely PathogenicGlaucoma 3, Primary Congenital, AEl-Gayar et al. 2009
231300.G.3Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 2 families with PCG; both non-p...
231300.G.6Saudi ArabiaLikely PathogenicGlaucoma 3, Primary Congenital, ABejjani et al. 2000 Group of 3 families with PCG
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