NM_000770.3:c.1196A>G

HGVS Expressions

  • NG_007972.1:g.35506A>G
  • NM_000770.3:c.1196A>G
  • NP_000761.3:p.Lys399Arg
  • NC_000010.11:g.95038992T>C
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Clinvar Clinical Significance

Association

Variant Type

Substitution

Clinvar

375654

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
171050.G.1United Arab Emirates0.1364Al-Mahayri et al. 2020 100 (52 females, 48 males) normal health...
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