NM_032504.1:c.8058+2T>G

HGVS Expressions

  • NG_051361.1:g.204035T>G
  • NM_032504.1:c.8058+2T>G
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Genomic Location

chr2:209970959

Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

684716

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
616801.6Egypt2PathogenicHypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 2Bramswig et al. 2018
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