NM_000481.4:c.922A>T

HGVS Expressions

  • NG_015986.1:g.9750A>T
  • NM_000481.4:c.922A>T
  • NP_000472.2:p.Ile308Phe
  • NC_000003.12:g.49417929T>A

Associated Genes

Aminomethyltransferase
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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
209850.2.1Saudi Arabia2Likely PathogenicAutismYu et al. 2013
209850.2.2Saudi Arabia2Likely PathogenicAutismYu et al. 2013 Sibling of 209850.2.1
209850.2.3Saudi Arabia1Likely PathogenicYu et al. 2013 Mother of 209850.2.1
209850.2.4Saudi Arabia1Likely PathogenicYu et al. 2013 Father of 209850.2.1
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