NM_004836.7:c.2985+1G>A

HGVS Expressions

  • NG_016424.1:g.61704G>A
  • NM_004836.7:c.2985+1G>A
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Genomic Location

chr2:88570873

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

5876

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
226980.2Saudi Arabia2PathogenicEpiphyseal Dysplasia, Multiple, with Early-Onset Diabetes MellitusAl-Gazali et al. 1995; Brickwood et al. 2003 The patient had a similarly affected bro...
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