NM_000277.3:c.1208C>T

HGVS Expressions

  • NG_008690.2:g.122904C>T
  • NM_000277.3:c.1208C>T
  • NP_000268.1:p.Ala403Val
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Genomic Location

chr12:102840507

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

dbSNP

5030857

Clinvar

92731

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.5.1Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Diagnosed through NBS
261600.5.2Lebanon1PathogenicPhenylketonuriaKaram et al. 2013 Sibling of 261600.5.1. Diagnosed through...
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