NM_000053.3:c.2071G>A

HGVS Expressions

  • NG_008806.1:g.56297G>A
  • NM_000053.3:c.2071G>A
  • NP_000044.2:p.Gly691Arg
  • NC_000013.11:g.51960198C>T
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

3866

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.30.1Lebanon2PathogenicWilson DiseaseBarada et al, 2007 Sibling of 277900.29.2, 277900.29.3, 277...
277900.30.2Lebanon2PathogenicWilson DiseaseBarada et al, 2007 Detected by screening
277900.30.3Lebanon2PathogenicWilson DiseaseBarada et al, 2007 Detected by screening
277900.30.4Lebanon2PathogenicWilson DiseaseBarada et al, 2007 Detected by screening
277900.30.5Lebanon2PathogenicWilson DiseaseBarada et al, 2007 First cousin once removed of 277900.29.1...
277900.30.6Lebanon1PathogenicBarada et al, 2007
277900.30.7Lebanon1PathogenicBarada et al, 2007
277900.30.8Lebanon1PathogenicBarada et al, 2007
277900.30.9Lebanon1PathogenicBarada et al, 2007 Mother of 277900.29.1, 277900.29.2, 2779...
277900.30.10Lebanon1PathogenicBarada et al, 2007 Father of 277900.29.1, 277900.29.2, 2779...
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