NM_004836.7:c.1035dup

HGVS Expressions

  • NG_016424.1:g.42004dup
  • NM_004836.7:c.1035dup
  • NP_004827.4:p.Lys346Ter
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Genomic Location

chr2:88590574

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Duplication

Clinvar

5874

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226980.3.1Tunisia2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusNicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004
226980.3.2Tunisia2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusNicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004 Sister of 226980.3.1
226980.3.3Tunisia2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusNicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004 Brother of 226980.3.1
226980.3.4Tunisia1Nicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004 Father of 226980.3.1
226980.3.5Tunisia1Nicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004 Mother of 226980.3.1
226980.3.6Tunisia1Nicolino et al. 1998; Delepine et al. 2000; Senee et al. 2004 Sister of 226980.3.1
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