NM_018418.5:c.288T>A

HGVS Expressions

  • NG_021183.1:g.36117T>A
  • NM_018418.5:c.288T>A
  • NP_060888.2:p.Cys96Ter
  • NC_000014.9:g.88416760T>A
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Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

191050

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
604232.3United Arab Emirates2Likely PathogenicLeber Congenital Amaurosis 3Alabdullatif et al. 2017
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