NM_000282.3c.1209+3A>G

HGVS Expressions

  • NG_008768.1:g.217524A>G
  • NM_000282.3c.1209+3A>G
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Genomic Location

chr13:100301606

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

553422

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606054.1Lebanon2PathogenicPropionic AcidemiaNair et al. 2018 Has affected siblings
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