NM_000082.3:c.966C>A

HGVS Expressions

  • NG_009289.1:g.59115C>A
  • NM_000082.3:c.966C>A
  • NP_000073.1:p.Tyr322Ter
  • NC_000005.10:g.60890964G>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1715

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216400.2Lebanon2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
216400.3Lebanon2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
216400.7Lebanon2PathogenicCockayne Syndrome, Type AChebly et al, 2018 The patient had two other affected sibli...
216400.G.1Palestine190.068PathogenicKhayat et al. 2010 19 of 280 Christian Arabs
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