NM_183059.2:c.112C>T

HGVS Expressions

  • NG_013042.1:g.16614C>T
  • NM_183059.2:c.112C>T
  • NP_898882.1:p.Arg38Ter
  • NC_000001.11:g.211481304G>A

Associated Genes

Retinal Degeneration 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189792

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610612.1.1Morocco2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 No affected relatives.
610612.1.2Morocco1PathogenicPerrault et al. 2013 Mother of patient 610612.1.1
610612.1.3Morocco1PathogenicPerrault et al. 2013 Father of patient 610612.1.1
610612.2.1Morocco2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 Proband.
610612.2.2Morocco2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 Sister of patient 610612.2.1
610612.2.3Morocco1PathogenicPerrault et al. 2013 Mother of patient 610612.2.1
610612.2.4Morocco1PathogenicPerrault et al. 2013 Father of patient 610612.2.1
610612.3.1Lebanon2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 Proband. The patient exhibited digito-oc...
610612.3.2Lebanon2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 Sister of patient 610612.3.1.
610612.3.3Lebanon2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 Brother of patient 610612.3.1.
610612.3.4Lebanon1PathogenicPerrault et al. 2013 Father of patient 610612.3.1.
610612.3.5Lebanon1PathogenicPerrault et al. 2013 Mother of patient 610612.3.1.
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