NM_032504.1:c.5671C>T

HGVS Expressions

  • NG_051361.1:g.163009C>T
  • NM_032504.1:c.5671C>T
  • NP_115893.1:p.Arg1891Ter
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Genomic Location

chr2:209929933

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684715

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.5Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Similarly affected paternal cousin (dece...
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