NM_014049.5:c.976G>A

HGVS Expressions

  • NG_017064.1:g.29590G>A
  • NM_014049.5:c.976G>A
  • NP_054768.2:p.Ala326Thr
  • NC_000003.12:g.128904079G>A
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Clinvar Clinical Significance

Likely Benign

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

Clinvar

136253

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
611103.G.2Qatar5730.0207Likely BenignDevadoss Gandhi et al. 2024 573 individuals from a study of 14,060 Q...
611103.G.3Qatar360.0207Likely BenignDevadoss Gandhi et al. 2024 18 individuals from a study of 14,060 Qa...
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