NM_014336.5:c.834G>A

HGVS Expressions

  • NG_008474.1:g.14419G>A
  • NM_014336.5:c.834G>A
  • NP_055151.3:p.Trp278Ter
  • NC_000017.11:g.6425781C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5565

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
604393.G.2Saudi Arabia4+PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
604393.G.3Saudi Arabia4+PathogenicLeber Congenital Amaurosis 4Patel et al. 2016 Family with unknown number of affected m...
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