Mexico NM_000558.5:c.163C>G

HGVS Expressions

  • NG_059186.1:g.5346C>G
  • NM_000558.5:c.163C>G
  • NP_000549.1:p.Gln55Glu
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Genomic Location

chr16:176996

Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Benign, Uncertain Significance

Variant Type

Substitution

Clinvar

15782

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
141800.G.1Algeria160+Benign, Uncertain SignificanceTrabuchet et al. 1977 A large consanguineous Algerian family w...
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