NM_020427.3:c.256G>A

HGVS Expressions

  • NG_011494.1:g.6213G>A
  • NM_020427.3:c.256G>A
  • NP_065160.1:p.Gly86Arg
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Genomic Location

chr8:142741199

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

4602

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
248300.G.1Palestine26PathogenicMal de MeledaEckl et al. 2003 13 members of a large family (8 females ...
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