NM_000045.4:c.130+1G>A

HGVS Expressions

  • NG_007086.2:g.8512G>A
  • NM_000045.4:c.130+1G>A
  • NC_000006.12:g.131576736G>A

Associated Genes

Arginase 1
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
207800.1Syria2NALikely PathogenicArgininemiaAl-Jasmi at al. 2016 UAE resident of Syrian origin
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