NM_152468.5:c.1024G>T

HGVS Expressions

  • NG_007881.1:g.9129G>T
  • NM_152468.5:c.1024G>T
  • NP_689681.2:p.Gly342Trp
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Genomic Location

chr17:78134906

Clinvar Clinical Significance

Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

456020

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
247100.9Lebanon1Likely BenignO'Blenes et al. 2015
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