NM_000104.3:c.1162G>A

HGVS Expressions

  • NG_008386.2:g.9910G>A
  • NM_000104.3:c.1162G>A
  • NP_000095.2:p.Ala388Thr
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Genomic Location

chr2:38071192

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
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
231300.11Kuwait1Likely PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Good prognosis with medication and surge...
231300.12Kuwait1Likely PathogenicGlaucoma 3, Primary Congenital, AAlfadhli et al. 2006 Bad prognosis
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