NM_000463.2:c.211G>A

HGVS Expressions

  • NG_033238.1:g.5226G>A
  • NM_000463.2:c.211G>A
  • NP_000454.1:p.Gly71Arg
  • NC_000002.12:g.233760498G>A
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Clinvar Clinical Significance

Association, Benign, Drug Response, Likely Benign, Likely Pathogenic, Pathogenic, Uncertain Significance

Variant Type

Substitution

dbSNP

4148323

Clinvar

12280

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
171050.G.1United Arab Emirates0.005Al-Mahayri et al. 2020 100 (52 females, 48 males) normal health...
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