NM_022464.5:c.1030-9G>A

HGVS Expressions

  • NG_008112.2:g.255895G>A
  • NM_022464.5:c.1030-9G>A
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Genomic Location

chr5:138947482

Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

280106

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyClinical SignificanceCondition(s)ReferenceRemarks
248800.1Saudi Arabia2PathogenicMarinesco-Sjogren SyndromeAnazi et al. 2016
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