NM_003060.3:c.760C>T

HGVS Expressions

  • NG_008982.2:g.20732C>T
  • NM_003060.3:c.760C>T
  • NP_003051.1:p.Arg254Ter
  • NC_000005.10:g.132385435C>T
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

6426

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212140.3.1Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryShibbani et al. 2014 Patient 'C IV-4' in the publication
212140.3.2Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryShibbani et al. 2014 Patient 'C IV-5' in the publication, twi...
212140.3.3Lebanon1NAShibbani et al. 2014 Father of 212140.3.1
212140.3.4Lebanon1NAShibbani et al. 2014 Mother of 212140.3.1
212140.3.5Lebanon1NAShibbani et al. 2014 Sister of 212140.3.1
212140.3.6Lebanon1NAShibbani et al. 2014 Sister of 212140.3.1
212140.3.7Lebanon1NAShibbani et al. 2014 Sister of 212140.3.1
212140.4.1Saudi Arabia2NAPathogenicCarnitine Deficiency, Systemic PrimaryLamhonwah et al. 2004
212140.4.2Saudi Arabia1NALamhonwah et al. 2004 Father of 212140.4.1
212140.4.3Saudi Arabia1NALamhonwah et al. 2004 Mother of 212140.4.1
212140.6.1Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryYamak et al. 2007 Proband from 'Family A' in the publicati...
212140.6.2Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryYamak et al. 2007 Affected sibling of 212140.6.1
212140.6.3Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryYamak et al. 2007 Affected sibling of 212140.6.1
212140.6.4Lebanon1NAYamak et al. 2007 Father of 212140.6.1
212140.6.5Lebanon1NAYamak et al. 2007 Mother of 212140.6.1
212140.6.6Lebanon1NAYamak et al. 2007 Sister of 212140.6.1
212140.6.7Lebanon1NAYamak et al. 2007 Sister of 212140.6.1
212140.6.8Lebanon1NAYamak et al. 2007 Brother of 212140.6.1
212140.7.1Lebanon2NAPathogenicCarnitine Deficiency, Systemic PrimaryYamak et al. 2007 Proband from 'Family B' in the publicati...
212140.7.2Lebanon1NAYamak et al. 2007 Father of 212140.7.1
212140.7.3Lebanon1NAYamak et al. 2007 Mother of 212140.7.1
212140.7.4Lebanon1NAYamak et al. 2007 Brother of 212140.7.1
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