NM_024818.5:c.31C>T

HGVS Expressions

  • NG_052968.1:g.11123C>T
  • NM_024818.5:c.31C>T
  • NP_079094.1:p.Arg11Trp
  • NC_000003.12:g.132660568C>T
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CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
617133.1.1Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 24Cabrera-Serrano et al. 2020 Australian family originating from Leban...
617133.1.2Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 24Cabrera-Serrano et al. 2020 Sibling of 617133.1.1
617133.1.3Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 24Cabrera-Serrano et al. 2020 Cousin of of 617133.1.1
617133.1.4Lebanon2PathogenicSpinocerebellar Ataxia, Autosomal Recessive 24Cabrera-Serrano et al. 2020 Sibling of 617133.1.3
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