NM_000104.3:c.1265T>C

HGVS Expressions

  • NG_008386.2:g.10013T>C
  • NM_000104.3:c.1265T>C
  • NP_000095.2:p.Val422Gly
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Genomic Location

chr2:38071091

CTGA Clinical Significance

Likely Benign, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
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
231300.10Kuwait2Likely BenignGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with surgery
231300.11Kuwait2Likely BenignGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.G.1Kuwait18Likely BenignAlfadhli et al. 2006 105 controls. Variant found in 18 chromo...
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