NM_020366.3:c.3330T>A

HGVS Expressions

  • NG_008933.1:g.51720T>A
  • NM_020366.3:c.3330T>A
  • NP_065099.3:p.Tyr1110Ter
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Genomic Location

chr14:21334696

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
613826.6Saudi Arabia2PathogenicLeber Congenital Amaurosis 6Khan et al. 2013; Abu-Safieh et al, 2013
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