NM_000218.2:c.1700T>C

HGVS Expressions

  • NG_008935.1:g.337010T>C
  • NM_000218.2:c.1700T>C
  • NP_000209.2:p.Ile567Thr
  • NC_000011.10:g.2777000T>C
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Clinvar Clinical Significance

Likely Pathogenic, Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

53007

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.5.1Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family D' in the publicati...
220400.5.2Saudi Arabia1NAAl-Aama et al. 2015 Father of 220400.5.1
220400.5.3Saudi Arabia1NAAl-Aama et al. 2015 Mother of 220400.5.1
220400.6.1Saudi Arabia2NAPathogenicJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family F' in the publicati...
220400.6.2Saudi Arabia1NAAl-Aama et al. 2015 Father of 220400.6.1
220400.6.3Saudi Arabia1NAAl-Aama et al. 2015 Mother of 220400.6.1
220400.6.4Saudi Arabia1NAAl-Aama et al. 2015 Sister of 220400.6.1
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