NM_020223.4:c.957-3C>G

HGVS Expressions

  • NG_033970.1:g.57948C>G
  • NM_020223.4:c.957-3C>G
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Genomic Location

chr7:248312

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

1026

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountClinical SignificanceCondition(s)ReferenceRemarks
259775.1Egypt2PathogenicRaine SyndromeAl-Gazali et al. 2003Al-Gazali et al. 2003; Simpson et al. 2007
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