NM_001918.4:c.1430T>G

HGVS Expressions

  • NG_011852.2:g.58580T>G
  • NM_001918.4:c.1430T>G
  • NP_001909.3:p.Met477Arg
  • NC_000001.11:g.100196274A>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic, Uncertain Significance

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

93994

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.1.3Lebanon2PathogenicMaple Syrup Urine DiseaseTabbouche et al, 2014
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