NM_032504.1:c.8116C>T

HGVS Expressions

  • NG_051361.1:g.205334C>T
  • NM_032504.1:c.8116C>T
  • NP_115893.1:p.Arg2706Ter
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Genomic Location

chr2:209972258

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684712

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.2Syria2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018
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