NM_005477.3:c.1840G>A

HGVS Expressions

  • NG_009063.1:g.49172G>A
  • NM_005477.3:c.1840G>A
  • NP_005468.1:p.Glu614Lys
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Genomic Location

chr15:73325093

Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

191454

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
609040.1Lebanon1Likely BenignRefaat et al. 2019
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