NM_033028.4:c.157-2A>G

HGVS Expressions

  • NG_009416.2:g.31058A>G
  • NM_033028.4:c.157-2A>G
  • NC_000015.10:g.72712242A>G

Associated Genes

BBS4 Gene
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Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9147

Epidemiology in the Arab World

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Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615982.2.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F005-A" in the publication
615982.2.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.2.1 "BBS-F005-B" in t...
615982.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F013-A" in the publication
615982.4Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-F017-A" in the publication
615982.5.1Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 "BBS-arRP-F026-A" in the publication
615982.5.2Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-B"...
615982.5.3Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-C"...
615982.5.4Saudi Arabia2PathogenicBardet-Biedl Syndrome 4Abu-Safieh et al. 2012; Abu Safieh et al. 2010 Sibling of 615982.5.1 "BBS-arRP-F026-D"...
615982.G.1Saudi Arabia4+PathogenicBardet-Biedl Syndrome 4Patel et al. 2016 Family with unknown number of affected m...
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