NM_000441.2:c.2029C>T

HGVS Expressions

  • NG_008489.1:g.46418C>T
  • NM_000441.2:c.2029C>T
  • NP_000432.1:p.Arg677Trp
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Genomic Location

chr7:107702052

Clinvar Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

179690

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601386.1Lebanon1Jalkh et al. 2019
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