NM_000350.3:c.1807T>C

HGVS Expressions

  • NG_009073.1:g.63443T>C
  • NM_000350.3:c.1807T>C
  • NP_000341.2:p.Tyr603His
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Genomic Location

chr1:94062707

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

417981

Epidemiology in the Arab World

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