NM_032504.1:c.601-1G>A

HGVS Expressions

  • NG_051361.1:g.19141G>A
  • NM_032504.1:c.601-1G>A
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Genomic Location

chr2:209786065

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

684717

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.7.1Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018 Similarly affected male sibling deceased
616801.7.2Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018
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