NM_000350.3:c.1648G>A

HGVS Expressions

  • NG_009073.1:g.62926G>A
  • NM_000350.3:c.1648G>A
  • NP_000341.2:p.Gly550Arg
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Genomic Location

chr1:94063224

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

99070

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248200.2Lebanon2PathogenicStargardt Disease 1Jalkh et al. 2019
248200.3Lebanon1Likely PathogenicStargardt Disease 1Jalkh et al. 2019
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