NM_006269.2:c.3396G>A

HGVS Expressions

  • NG_009840.2:g.16212G>A
  • NM_006269.2:c.3396G>A
  • NP_006260.1:p.Trp1132Ter

Associated Genes

RP1 Gene
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Genomic Location

chr8:54627278

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

800956

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
180100.1Saudi Arabia2PathogenicRetinitis Pigmentosa 1Patel et al, 2018
180100.5Saudi Arabia2PathogenicRetinitis Pigmentosa 1Al-Rashed et al. 2012
180100.G.1Saudi Arabia6PathogenicRetinitis Pigmentosa 1Patel et al, 2018 3 Members of a family
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