NM_000277.3:c.691T>C

HGVS Expressions

  • NG_008690.2:g.108260T>C
  • NM_000277.3:c.691T>C
  • NP_000268.1:p.Ser231Pro
  • NC_000012.12:g.102855151A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

dbSNP

5030845

Clinvar

102786

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
261600.34Yemen2Likely PathogenicPhenylketonuriaBen-Rebeh et al. 2012
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