NM_017890.4:c.9406-1G>T

HGVS Expressions

  • NG_007098.2:g.824103G>T
  • NM_017890.4:c.9406-1G>T
  • NP_060360.3:p.?
  • NC_000008.11:g.99832368G>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

189197

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.5.1Lebanon2PathogenicCohen SyndromeMégarbané et al. 2001; Mégarbané et al, 2009
216550.5.2Lebanon2PathogenicCohen SyndromeMégarbané et al. 2001; Mégarbané et al, 2009 Brother of 216550.5.1
216550.5.3Lebanon1PathogenicMégarbané et al. 2001; Mégarbané et al, 2009 Unaffected mother of 216550.5.1
216550.5.4Lebanon1PathogenicMégarbané et al. 2001; Mégarbané et al, 2009 Unaffected sister of 216550.5.1
268050.1.1Lebanon2PathogenicRetinopathy, Pigmentary, and Mental RetardationHennies et al. 2004 Brother of 268050.1.2, Cousin of 268050....
268050.1.2Lebanon2PathogenicRetinopathy, Pigmentary, and Mental RetardationHennies et al. 2004 Brother of 268050.1.1, Cousin of 268050....
268050.1.3Lebanon2PathogenicRetinopathy, Pigmentary, and Mental RetardationHennies et al. 2004 Cousin of 268050.1.1 and 268050.1.2
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