NM_001319217.2:c.1384A>C

HGVS Expressions

  • NG_061374.1:g.9885A>C
  • NM_001319217.2:c.1384A>C
  • NP_001306146.1:p.Ile462Leu
  • NC_000015.10:g.74720644T>G
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CTGA Clinical Significance

Benign

Variant Type

Substitution

dbSNP

1048943

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
108330.G.2Arab0.017BenignMartínez-Labarga et al. 2019 58 healthy Arabs from Dubai, UAE
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