NM_183059.2:c.137_138del

HGVS Expressions

  • NG_013042.1:g.16639_16640del
  • NM_183059.2:c.137_138del
  • NP_898882.1:p.Glu46AlafsTer26
  • NC_000001.11:g.211481279_211481280del

Associated Genes

Retinal Degeneration 3
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

189793

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
610612.4.1Algeria2PathogenicLeber Congenital Amaurosis 12Perrault et al. 2013 No other relatives reported.
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