NM_032856.3:c.129T>G

HGVS Expressions

  • NG_042034.1:g.6561T>G
  • NM_032856.3:c.129T>G
  • NP_116245.2:p.Tyr43Ter
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Genomic Location

chr15: 84652783

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

162610

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
251300.3.1Morocco2PathogenicGalloway-Mowat Syndrome 1Colin et al, 2014
251300.3.2Morocco2PathogenicGalloway-Mowat Syndrome 1Colin et al, 2014 Sibling of 251300.3.1
251300.3.3Morocco1PathogenicColin et al, 2014 Father of 251300.3.1
251300.3.4Morocco1PathogenicColin et al, 2014 Mother of 251300.3.1
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