NM_183050.4:c.995C>T

HGVS Expressions

  • NG_009775.2:g.171552C>T
  • NM_183050.4:c.995C>T
  • NP_000047.1:p.Pro332Leu
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Genomic Location

chr6:80273178

Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

432059

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.3Lebanon2PathogenicMaple Syrup Urine DiseaseNair et al. 2018
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