NM_000784.4:c.1061A>G

HGVS Expressions

  • NG_007959.1:g.37316A>G
  • NM_000784.4:c.1061A>G
  • NP_000775.1:p.Asp354Gly
  • NC_000002.12:g.218814064A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

65827

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
606530.G.2Qatar20.009Uncertain SignificanceDevadoss Gandhi et al. 2024 2 individuals from a study of 14,060 Qat...
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