NM_020366.4:c.2876del

HGVS Expressions

  • NG_008933.2:g.52707del
  • NM_020366.4:c.2876del
  • NP_065099.3:p.Lys959ArgfsTer42
  • NC_000014.9:g.21327788del
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613826.9Saudi Arabia2Likely PathogenicLeber Congenital Amaurosis 6Patel et al. 2016
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