NM_018418.5:c.960dup

HGVS Expressions

  • NG_021183.1:g.48752dup
  • NM_018418.5:c.960dup
  • NP_060888.2:p.Pro321fs
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Genomic Location

chr14:88429395

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

1396

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604232.2Saudi Arabia2PathogenicLeber Congenital Amaurosis 3Wang et al. 2009
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