NM_032856.3:c.68T>A

HGVS Expressions

  • NG_042034.1:g.5671T>A
  • NM_032856.3:c.68T>A
  • NP_116245.2:p.Leu23Gln
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Genomic Location

chr15: 84653673

Clinvar Clinical Significance

Likely Pathogenic

CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Clinvar

208468

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251300.2.1Somalia2Likely PathogenicGalloway-Mowat Syndrome 1Vodopiutz et al, 2015
251300.2.2Somalia1Likely PathogenicVodopiutz et al, 2015 Father of 251300.2.1
251300.2.3Somalia1Likely PathogenicVodopiutz et al, 2015 Mother of 251300.2.1
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