NM_001543.5:c.985C>T

HGVS Expressions

  • NG_041806.1:g.35498C>T
  • NM_001543.5:c.985C>T
  • NP_001534.1:p.Arg329Cys
  • NC_000005.10:g.150528275C>T
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Clinvar Clinical Significance

Uncertain Significance

CTGA Clinical Significance

Uncertain Significance

Variant Type

Substitution

Clinvar

3064174

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616116.1Saudi Arabia2Uncertain SignificanceIntellectual Developmental Disorder, Autosomal Recessive 46Monies et al. 2017
616116.2Saudi Arabia2Uncertain SignificanceIntellectual Developmental Disorder, Autosomal Recessive 46Monies et al. 2017
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