NM_020376.4:c.662G>C

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  2. 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

Associated Genes

Patatin-Like Phospholipase Domain-Containing Protein 2
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Genomic Location

chr11:822572

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

554737718

Clinvar

663841

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(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
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Contributors

  • Sayeeda Hana: 27.02.2020

Edit History

  • Sayeeda Hana: 27.02.2020
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© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.