NM_017890.4:c.7934G>A

HGVS Expressions

  • NG_007098.2:g.776129G>A
  • NM_017890.4:c.7934G>A
  • NP_060360.3:p.Gly2645Asp
  • NC_000008.11:g.99784394G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

2824

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.1.1Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.2 and 216550.1.3
216550.1.2Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.1 and 216550.1.3
216550.1.3Oman2PathogenicCohen SyndromeHennies et al. 2004 Sibling of 216550.1.1 and 216550.1.2
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