NM_003982.4:c.1005C>A

HGVS Expressions

  • NG_012851.2:g.59287C>A
  • NM_003982.4:c.1005C>A
  • NP_003973.3:p.Phe335Leu
  • NC_000014.9:g.22775534G>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
222700.G.1United Arab EmiratesLikely PathogenicLysinuric Protein IntoleranceAl-Shamsi et al. 2014 Mutations reported in unknown number of ...
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