NM_152564.5:c.1219C>T

HGVS Expressions

  • NG_007098.2:g.126379C>T
  • NM_152564.5:c.1219C>T
  • NP_060360.3:p.Gln407Ter
  • NC_000008.11:g.99134644C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

56645

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
216550.2.1Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.2 and 216550.2.3
216550.2.2Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.1 and 216550.2.3
216550.2.3Saudi Arabia2PathogenicCohen SyndromeMochida et al. 2004 Sibling of 216550.2.1 and 216550.2.2
216550.9.1Saudi Arabia2PathogenicCohen SyndromeCharng et al. 2016 Proband from 'family 034' in the publica...
216550.9.2Saudi Arabia1Charng et al. 2016 Father of 216550.9.1
216550.9.3Saudi Arabia1Charng et al. 2016 Mother of 216550.9.1
216550.10Saudi Arabia2PathogenicCohen SyndromeMonies et al. 2017
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