NM_032504.1:c.7697A>C

HGVS Expressions

  • NG_051361.1:g.200602A>C
  • NM_032504.1:c.7697A>C
  • NP_115893.1:p.Glu2566Ala
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Genomic Location

chr2:209967523

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.1Lebanon2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Nair et al. 2018
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