NM_001918.4:c.224G>A

HGVS Expressions

  • NG_011852.2:g.19391G>A
  • NM_001918.4:c.224G>A
  • NP_001909.3:p.Gly75Glu
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Genomic Location

chr1:100235463

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248600.1.1Lebanon2PathogenicMaple Syrup Urine DiseaseTabbouche et al, 2014
248600.1.2Lebanon2PathogenicMaple Syrup Urine DiseaseTabbouche et al, 2014
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