NM_001079673.2:c.1186G>A

HGVS Expressions

  • NM_001079673.2:c.1186G>A
  • NP_001073141.1:p.Asp396Asn
  • NC_000013.11:g.49172052G>A
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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
615794.1.1Kuwait2Uncertain SignificanceReuter et al. 2017 Authors classified this gene variant as ...
615794.1.2Kuwait2Uncertain SignificanceReuter et al. 2017 Relative of 615794.1.1
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