NM_000350.3:c.3259G>A

HGVS Expressions

  • NG_009073.1:g.83320G>A
  • NM_000350.3:c.3259G>A
  • NP_000341.2:p.Glu1087Lys
  • NC_000001.11:g.94042830C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

99211

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.7United Arab Emirates1Likely PathogenicStargardt Disease 1Khan. 2020 Patient '19' in the publication
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