NM_000350.3:c.3482G>A

HGVS Expressions

  • NG_009073.1:g.84901G>A
  • NM_000350.3:c.3482G>A
  • NP_000341.2:p.Arg1161His
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Genomic Location

chr1:94041249

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

236102

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601718.G.1Syria4PathogenicRetinitis Pigmentosa 19Patel et al, 2018 4 members of a family
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