NM_018668.5:c.1019dup

HGVS Expressions

  • NG_012162.1:g.21899dup
  • NM_018668.5:c.1019dup
  • NP_061138.3:p.Leu340fs
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Genomic Location

chr15:91005705

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Duplication

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
208085.5Lebanon2Likely PathogenicArthrogryposis, Renal Dysfunction, and Cholestasis 1Jalkh et al. 2019
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