NM_003325.4:c.41A>G

HGVS Expressions

  • NG_009231.2:g.25922A>G
  • NM_003325.4:c.41A>G
  • NP_003316.3:p.Lys14Arg
  • NC_000022.11:g.19410775T>C
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
600237.1Saudi Arabia2PathogenicIntellectual Deficiency, UnclassifiedAnazi et al. 2016
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