NM_201253.3:c.4121_4130del

HGVS Expressions

  • NG_008483.2:g.281318_281327del
  • NM_201253.3:c.4121_4130del
  • NP_957705.1:p.Ala1374fs
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Genomic Location

chr1:197477779-197477788

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

5740

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
613835.G.1PalestinePathogenicLeber Congenital Amaurosis 8Gerber et al. 2002 Group consisting of affected members fro...
613835.G.6PalestinePathogenicLeber Congenital Amaurosis 8Beryozkin et al. 2013 Group consisting of affected members fro...
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