NM_006269.2:c.606C>A

HGVS Expressions

  • NG_009840.1:g.10506C>A
  • NM_006269.2:c.606C>A
  • NP_006260.1:p.Asp202Glu

Associated Genes

RP1 Gene
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Genomic Location

chr8:54621572

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

979011

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.2.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009
180100.2.2Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009 Sister of 180100.2.1
180100.2.3Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009 Sister of 180100.2.1
180100.2.4Saudi Arabia2PathogenicRetinitis Pigmentosa 1Aldahmesh et al. 2009 Brother of 180100.2.1
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