NM_000532.5:c.990dup

HGVS Expressions

  • NG_008939.1:g.71640dup
  • NM_000532.5:c.990dup
  • NP_000523.2:p.Glu331Ter
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Genomic Location

chr3:136316964

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

167423

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606054.2Oman2PathogenicPropionic AcidemiaAl-Shamsi et al. 2014; Ali et al. 2011 Emirati tribe of Omani origin
606054.3Oman2PathogenicPropionic AcidemiaAl-Shamsi et al. 2014 Emirati tribe of Omani origin
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