NM_001172435.2:c.475_478del

HGVS Expressions

  • NG_016972.1:g.65999_66002del
  • NM_001172435.2:c.475_478del
  • NP_001165906.1:p.Thr159fs
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Genomic Location

2:135113263

Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

285764

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
600118.2Morocco2Warburg Micro Syndrome 1Aligianis et al. 2005 Proband from a large affected kindred
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