NM_003982.4:c.1185_1188del

HGVS Expressions

  • NG_012851.2:g.60407_60410del
  • NM_003982.4:c.1185_1188del
  • NP_003973.3:p.Ser396fs
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Genomic Location

chr14:22774413-22774416

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Deletion

Clinvar

56352

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222700.2.1Tunisia2PathogenicLysinuric Protein IntoleranceSperandeo et al. 2000
222700.2.2Tunisia2PathogenicLysinuric Protein IntoleranceSperandeo et al. 2000 Brother of 222700.2.1
222700.3.1Tunisia2PathogenicLysinuric Protein IntoleranceEsseghir et al. 2011 Proband and sibling of 222700.3.2
222700.3.2Tunisia2PathogenicLysinuric Protein IntoleranceEsseghir et al. 2011 Lysinuric protein intolerance was prenat...
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