NM_000218.2:c.604G>A

HGVS Expressions

  • NG_008935.1:g.130764G>A
  • NM_000218.2:c.604G>A
  • NP_000209.2:p.Asp202Asn
  • NC_000011.10:g.2570754G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

53077

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
220400.3.1Saudi Arabia2NAUncertain SignificanceJervell and Lange-Nielsen Syndrome 1Al-Aama et al. 2015 Proband from 'Family B' in the publicati...
220400.3.2Saudi Arabia1NAAl-Aama et al. 2015 Son of 220400.3.1
220400.3.3Saudi Arabia1NAAl-Aama et al. 2015 Daughter of 220400.3.1
220400.3.4Saudi Arabia1NAAl-Aama et al. 2015 Daughter of 220400.3.1
220400.3.5Saudi Arabia1NAAl-Aama et al. 2015 Son of 220400.3.1
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