NM_005957.5:c.1596C>G

HGVS Expressions

  • NG_013351.1:g.18790C>G
  • NM_005957.5:c.1596C>G
  • NP_005948.3:p.Tyr532Ter
  • NC_000001.11:g.11792314G>C
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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
236250.1United Arab Emirates2Likely PathogenicHomocystinuria due to Deficiency of N(5,10)-Methylenetetrahydrofolate Reductase ActivityAl-Shamsi et al. 2016
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