NM_003647.2:c.889-2A>G

HGVS Expressions

  • NG_033888.1:g.19596A>G
  • NM_003647.2:c.889-2A>G
  • NC_000017.11:g.56848694A>G
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

39580

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615008.1.1Lebanon2PathogenicNephrotic Syndrome, Type 7Ozaltin et al. 2013
615008.1.2Lebanon2PathogenicNephrotic Syndrome, Type 7Ozaltin et al. 2013 Brother of 615008.1.1
615008.1.3Lebanon2PathogenicNephrotic Syndrome, Type 7Ozaltin et al. 2013 Brother of 615008.1.1
615008.1.4Lebanon1Ozaltin et al. 2013 Father of 615008.1.1
615008.1.5Lebanon1Ozaltin et al. 2013 Mother of 615008.1.1
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