NM_025114.4:c.2963A>C

HGVS Expressions

  • NG_008417.2:g.44351A>C
  • NM_025114.4:c.2963A>C
  • NP_079390.3:p.Gln988Pro
  • NC_000012.12:g.88102866T>G

Associated Genes

Centrosomal Protein 290
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Variant Type

Substitution

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.4Saudi Arabia1Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F017-A" in the publication
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