NM_014694.3:c.938T>C

HGVS Expressions

  • NG_009931.1:g.20049T>C
  • NM_014694.3:c.938T>C
  • NP_055509.2:p.Met313Thr
  • NC_000009.12:g.133547212T>C

Associated Genes

ADAMTS-Like Protein 2
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CTGA Clinical Significance

Likely Pathogenic

Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
231050.1.1United Arab Emirates; Yem...2Likely PathogenicGeleophysic Dysplasia 1Ben-Salem et al. 2013 The patient belongs to an Emirati family...
231050.1.2United Arab Emirates; Yem...1Ben-Salem et al. 2013 Father of 231050.1.1
231050.1.3United Arab Emirates; Yem...1Ben-Salem et al. 2013 Mother of 231050.1.1
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