NM_000170.3:c.919G>T

HGVS Expressions

  • NG_016397.1:g.45966G>T
  • NM_000170.3:c.919G>T
  • NP_000161.2:p.Glu307Ter
  • NC_000009.12:g.6604727C>A

Associated Genes

Glycine Decarboxylase
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CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
605899.1United Arab Emirates2PathogenicGlycine EncephalopathyAl-Shamsi et al. 2014
605899.3United Arab Emirates2Likely PathogenicGlycine EncephalopathySaleh et al. 2021 History of neonatal death in family
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