NM_000053.3:c.2817G>T

HGVS Expressions

  • NG_008806.1:g.66785G>T
  • NM_000053.3:c.2817G>T
  • NP_000044.2:p.Trp939Cys
  • NC_000013.11:g.51949710C>A
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Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

371483

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
277900.31.1Lebanon2PathogenicWilson DiseaseUsta et al. 2012 Sibling of 277900.30.2 and 277900.30.3
277900.31.2Lebanon2PathogenicWilson DiseaseUsta et al. 2012 Sibling of 277900.30.1 and 277900.30.3
277900.31.3Lebanon2PathogenicWilson DiseaseUsta et al. 2012 Sibling of 277900.30.1 and 277900.30.2
277900.31.4Lebanon1PathogenicUsta et al. 2012 Mother of 277900.30.1, 277900.30.2 and 2...
277900.31.5Lebanon1PathogenicUsta et al. 2012 Father of 277900.30.1, 277900.30.2 and 2...
277900.32.1Lebanon2PathogenicWilson DiseaseUsta et al. 2012 Has affected deceased sibling, not genot...
277900.32.2Lebanon1PathogenicUsta et al. 2012 Sibling of 277900.31.1
277900.32.3Lebanon1PathogenicUsta et al. 2012 Sibling of 277900.31.1
277900.32.4Lebanon1PathogenicUsta et al. 2012 Mother of 277900.31.1
277900.32.5Lebanon1PathogenicUsta et al. 2012 Father of 277900.31.1
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