NM_001387025.1:c.994C>T

HGVS Expressions

  • NM_001387025.1:c.994C>T
  • NP_001373954.1:p.Arg332Trp
  • NC_000011.10:g.123600492C>T
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CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
620179.1.1Syria2Uncertain SignificanceReuter et al. 2017 Authors classified this gene variant as ...
620179.1.2Syria2Uncertain SignificanceReuter et al. 2017 Relative of 620179.1.1
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