NM_000350.3:c.749del

HGVS Expressions

  • NG_009073.1:g.27337del
  • NM_000350.3:c.749del
  • NP_000341.2:p.Phe250SerfsTer12
  • NC_000001.11:g.94098814del
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Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
248200.11United Arab Emirates2Likely PathogenicStargardt Disease 1Alabdullatif et al. 2017
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