NM_001350748.2:c.4237C>T

HGVS Expressions

  • NG_053176.1:g.348576C>T
  • NP_001337677.1:p.Arg1413Ter
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Genomic Location

chr13:101073631

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684708

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615419.7Saudi Arabia2PathogenicHypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1Bramswig et al. 2018
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