NM_001142800.2:c.875_890delinsTTTCT

HGVS Expressions

  • NG_023443.2:g.306871_306886delinsTTTCT
  • NM_001142800.2:c.875_890delinsTTTCT
  • NP_001136272.1:p.Glu292fs

Associated Genes

Eyes Shut Homolog
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Genomic Location

chr6:65405340-65405355

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Indel

Clinvar

829892

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
602772.G.1Saudi Arabia4PathogenicRetinitis Pigmentosa 25Patel et al, 2018 2 members of a family
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