NM_001182.4:c.228+2T>A

HGVS Expressions

  • NG_008600.2:g.7024T>A
  • NM_001182.4:c.228+2T>A
  • NP_001173.2:p.Ile77Lys
  • NC_000005.10:g.126593367A>T
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
266100.4.1ArabLikely PathogenicEpilepsy, Pyridoxine DependentMills et al. 2006 Brother of 266100.4.2
266100.4.2ArabLikely PathogenicEpilepsy, Pyridoxine DependentMills et al. 2006 Sister of 266100.4.1
266100.4.3Arab1Likely PathogenicMills et al. 2006 Mother of 266100.4.1 and 266100.4.2
266100.4.4Arab1Likely PathogenicMills et al. 2006 Father of 266100.4.1 and 266100.4.2
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