NM_001308122.1:c.64_66TTC[1]

HGVS Expressions

  • NG_008982.2:g.5333_5335TTC[1]
  • NM_001308122.1:c.64_66TTC[1]
  • NP_003051.1:p.Phe23del
  • NC_000005.10:g.132370036_132370038TTC[1]
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Deletion

Clinvar

25353

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
212140.1.1Lebanon2NALikely PathogenicCarnitine Deficiency, Systemic PrimaryShibbani et al. 2014 Patient 'A IV-6' in the publication
212140.1.2Lebanon1NAShibbani et al. 2014 Father of 2121401.1
212140.1.3Lebanon1NAShibbani et al. 2014 Mother of 2121401.1
212140.1.4Lebanon1NAShibbani et al. 2014 Sister of 2121401.1
212140.1.5Lebanon1NAShibbani et al. 2014 Sister of 2121401.1
212140.1.6Lebanon1NAShibbani et al. 2014 Brother of 2121401.1
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