NM_024685.4:c.931T>G

HGVS Expressions

  • NG_016357.1:g.6389T>G
  • NM_024685.4:c.931T>G
  • NP_078961.3:p.Ser311Ala

Associated Genes

BBS10 Gene
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Genomic Location

chr12:76347054

Clinvar Clinical Significance

Pathogenic

CTGA Clinical Significance

Likely Pathogenic, Pathogenic

Variant Type

Substitution

Clinvar

1331

Epidemiology in the Arab World

View Map
Subject IDCountry of OriginAllele CountAllele FrequencyCTGA Clinical Significance Condition(s)ReferenceRemarks
615987.1.01Lebanon1Likely PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 He belongs to the same large consanguine...
615987.1.02Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1.01
615987.1.03Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.02, Relative of 61598...
615987.1.04Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.02, Relative of 61598...
615987.1.05Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Sister of 615987.1.02, Relative of 61598...
615987.1.06Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1.01
615987.1.07Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1.06, Relative of 6159...
615987.1.08Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Relative of 615987.1.01
615987.1.09Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1.08, Relative of 6159...
615987.1.10Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006; Muller et al. 2010 Brother of 615987.1.08, Relative of 6159...
615987.1.11Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006 Relative of 615987.1.01
615987.1.12Lebanon2PathogenicBardet-Biedl Syndrome 10Stoetzel et al. 2006; Laurier et al, 2006 Sister of 615987.1.11, Relative of 61598...
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