NM_020376.4:c.662G>C

HGVS Expressions

  • NG_023394.1:g.8672G>C
  • NM_020376.4:c.662G>C
  • NP_065109.1:p.Arg221Pro
Back to search Result
Genomic Location

chr11:822572

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

663841

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
610717.1.1Lebanon2PathogenicNeutral Lipid Storage Disease with MyopathyTavian et al, 2012
610717.1.2Lebanon2PathogenicNeutral Lipid Storage Disease with MyopathyTavian et al, 2012 Sister of 610717.1.1
© CAGS 2021. All rights reserved.