NM_000033.4:c.1813C>G

HGVS Expressions

  • NG_009022.2:g.23152C>G
  • NM_000033.4:c.1813C>G
  • NP_000024.2:p.Leu605Arg
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Genomic Location

chrX:153743019

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
300100.2Lebanon2Likely PathogenicAdrenoleukodystrophyNair et al. 2018
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