NM_000218.2:c.817C>T

HGVS Expressions

  • NG_008935.1:g.132892C>T
  • NM_000218.2:c.817C>T
  • NP_000209.2:p.Leu273Phe
  • NC_000011.10:g.2572882C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic, Uncertain Significance

Variant Type

Substitution

Clinvar

3119

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.2.1Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family A' in the publicati...
220400.2.2Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Brother of 220400.2.1
220400.2.3Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Sister of 220400.2.1
220400.2.4Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Father of 220400.2.1, minor QTc prolonga...
220400.2.5Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Mother of 220400.2.1, minor QTc prolonga...
220400.2.6Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Paternal grandfather of 220400.2.1
220400.2.7Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 II:2, paternal aunt of 220400.2.1
220400.2.8Saudi Arabia1NAAl-Aama et al. 2015 Paternal uncle of 220400.2.1
220400.2.9Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Paternal aunt of 220400.2.1
220400.2.10Saudi Arabia1NAAl-Aama et al. 2015 Maternal uncle of 220400.2.1
220400.2.11Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Maternal aunt of 220400.2.1
220400.2.12Saudi Arabia1NAUncertain SignificanceAl-Aama et al. 2015 Paternal cousin of 220400.2.1, has Stick...
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