NM_032504.1:c.520C>T

HGVS Expressions

  • NG_051361.1:g.10555C>T
  • NM_032504.1:c.520C>T
  • NP_115893.1:p.Arg174Ter
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Genomic Location

chr2:209777479

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684713

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
616801.3.1Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Two older similarly affected siblings di...
616801.3.2Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Sibling of 616801.3.1
616801.3.3Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Relative of 616801.3.1
616801.3.4Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Sibling of 616801.3.3
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