NM_005629.4:c.1661C>T

HGVS Expressions

  • NG_012016.2:g.11487C>T
  • NM_005629.4:c.1661C>T
  • NP_005620.1:p.Pro554Leu
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Genomic Location

chrX:153694783

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

65693

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
300036.1Lebanon1PathogenicCerebral Creatine Deficiency Syndrome 1Nair et al. 2018
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