NM_004836.7:c.1570_1573del

HGVS Expressions

  • NG_016424.1:g.46652GAAA[1]
  • NM_004836.7:c.1570_1573del
  • NP_004827.4:p.Lys523_Glu524insTer
  • NC_000002.12:g.88585918TTTC[1]
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Microsatellite

Clinvar

5877

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226980.1.1Saudi Arabia2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusBonthron et al. 1998; Brickwood et al. 2003 The patient had a younger brother with D...
226980.1.2Saudi Arabia1Bonthron et al. 1998; Brickwood et al. 2003 Father of 226980.1.1
226980.1.3Saudi Arabia1Bonthron et al. 1998; Brickwood et al. 2003 Mother of 226980.1.1
226980.1.4Saudi Arabia1Bonthron et al. 1998; Brickwood et al. 2003 Sister of 226980.1.1
226980.6United Arab Emirates2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusDeeb et al. 2016
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