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
Back to search Result
Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Pathogenic

Variant Type

Substitution

Clinvar

9147

Epidemiology in the Arab World

View Map
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"...
© CAGS 2024. All rights reserved.