NM_000350.3:c.4852T>A

HGVS Expressions

  • NG_009073.2:g.104742T>A
  • NM_000350.3:c.4852T>A
  • NP_000341.2:p.Trp1618Arg
  • NC_000001.11:g.94021406A>T
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

190984

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.13Saudi Arabia2Likely PathogenicStargardt Disease 1Patel et al. 2016
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