NM_005957.5:c.137G>A

HGVS Expressions

  • NG_008766.1:g.1831C>T
  • NM_005957.5:c.137G>A
  • NP_005948.3:p.Arg46Gln
  • NC_000001.11:g.11802980C>T
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

187867

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
607093.G.2Qatar60.019Uncertain SignificanceDevadoss Gandhi et al. 2024 6 individuals from a study of 14,060 Qat...
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