NM_013328.4:c.796C>T

HGVS Expressions

  • NG_044963.1:g.8132C>T
  • NM_013328.4:c.796C>T
  • NP_037460.2:p.Arg266Ter
  • NC_000001.11:g.225921209G>A
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

254247

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616420.2United Arab Emirates2PathogenicLeukodystrophy, Hypomyelinating, 10Al-Shamsi et al. 2016
616420.3Morocco2Likely PathogenicLeukodystrophy, Hypomyelinating, 10Meng et al. 2017
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