NM_024884.2:c.467G>T

HGVS Expressions

  • NG_008092.1:g.23042G>T
  • NM_024884.2:c.467G>T
  • NP_079160.1:p.Gly156Val
  • NC_000014.9:g.50294188C>A
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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
236792.2.1Saudi Arabia1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F7' in the publicat...
236792.2.2Saudi Arabia1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F7' in the publicat...
236792.2.3Saudi Arabia1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F7' in the publicat...
236792.2.4Saudi Arabia1NALikely PathogenicL-2-Hydroxyglutaric AciduriaSass et al. 2008 Patient from family 'F7' in the publicat...
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