NM_005522.5:c.175dup

HGVS Expressions

  • NG_011813.1:g.5269dup
  • NM_005522.5:c.175dup
  • NP_005513.2:p.Val59GlyfsTer119
  • NC_000007.14:g.27095743dup

Associated Genes

Homeobox A1
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

14898

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
601536.1.1Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Patient from 'family/pedigree KF' in the...
601536.1.2Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Brother of 601536.1.1
601536.1.3Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Brother of 601536.1.1
601536.1.4Saudi Arabia1Tischfield et al. 2005 Father of 601536.1.1
601536.2.1Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Patient from 'family/pedigree LF' in the...
601536.2.2Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Sister of 601536.2.1
601536.3.1Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Patient from 'family/pedigree LG' in the...
601536.3.2Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Sister of 601536.3.1
601536.4.1Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007; Tischfield et al. 2005 Patient from 'family/pedigree NO' in the...
601536.4.2Saudi Arabia1Tischfield et al. 2005 Father of 601536.4.1
601536.4.3Saudi Arabia1Tischfield et al. 2005 Mother of 601536.4.1
601536.5Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2007 Patient from 'family/pedigree KK' in the...
601536.7Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 'Patient B1' in the publication
601536.8.1Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 'Patient C1' in the publication
601536.8.2Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 Sister of 601538.8.1
601536.8.3Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 Sister of 601538.8.1
601536.8.4Saudi Arabia2PathogenicAthabaskan Brainstem Dysgenesis SyndromeBosley et al. 2008 Brother of 601538.8.1
601536.2.GSaudi Arabia4Tischfield et al. 2005 Relatives of 601536.2.1 (parents + 2 bro...
601536.3.GSaudi Arabia7Tischfield et al. 2005 Relatives of 601536.3.1 (parents + 5 sis...
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