NM_000082.3:c.551-1G>A

HGVS Expressions

  • NG_009289.1:g.47570G>A
  • NM_000082.3:c.551-1G>A
  • NP_000073.1:p.?
  • NC_000005.10:g.60902509C>T
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216400.1.1Somalia2PathogenicCockayne Syndrome, Type AKleppa et al. 2007
216400.1.2Somalia2PathogenicCockayne Syndrome, Type AKleppa et al. 2007 Sibling of 216400.1.1
216400.5.1Sudan2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
216400.5.2Sudan2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
216400.5.3Sudan2PathogenicCockayne Syndrome, Type ALaugel et al, 2010
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