NM_000159.4:c.1204C>T

HGVS Expressions

  • NG_009292.1:g.11665C>T
  • NM_000159.4:c.1204C>T
  • NP_000150.1:p.Arg402Trp
  • NC_000019.10:g.12897824C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

2085

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231670.3United Arab Emirates2Likely PathogenicGlutaric Acidemia IAl-Shamsi et al. 2014; Saleh et al. 2021
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