NM_000104.3:c.1379T>A

HGVS Expressions

  • NG_008386.2:g.10129T>A
  • NM_000104.3:c.1379T>A
  • NP_000095.2:p.Val460Glu
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Genomic Location

chr2:38070975

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231300.15Saudi Arabia1PathogenicGlaucoma 3, Primary Congenital, AKhan et al. 2011
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