NM_006343.3:c.2323C>T

HGVS Expressions

  • NG_011607.1:g.127942C>T
  • NM_006343.3:c.2323C>T
  • NP_006334.2:p.Arg775Ter
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Genomic Location

chr2:112021555

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

37305

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
612862.2.1Morocco2PathogenicRetinitis Pigmentosa 38Ksantini et al, 2012
613862.2.2Morocco2PathogenicRetinitis Pigmentosa 38Ksantini et al, 2012 Brother of 613862.2.1
613862.2.3Morocco2PathogenicRetinitis Pigmentosa 38Ksantini et al, 2012 Sister of 613862.2.1
613862.2.4Morocco1Ksantini et al, 2012 Father of 613862.2.1
613862.2.5Morocco1Ksantini et al, 2012 Mother of 613862.2.1
613862.2.6Morocco1Ksantini et al, 2012 Brother of 613862.2.1
613862.2.7Morocco1Ksantini et al, 2012 Brother of 613862.2.1
613862.2.8Morocco1Ksantini et al, 2012 Sister of 613862.2.1
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