Gene Symbol: BBS2
OMIM: 606151Chromosome location: 16q12.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Phenotype: | Bardet-Biedl syndrome 2 |
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| Dna Change: | c.565C>T |
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| Protein Change: | p.Arg189X |
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| Mutation Type: | Substitution |
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| Mutation Effect: | Nonsense |
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| Location: | exon 5 |
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| Transcript: | NM_031885.3 |
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| Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Tunisia | NA | NA | 2 unrelated families/19 families | NA | Smaoui N et al., 2006Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF, . Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.. Invest. Ophthalmol. Vis. Sci.. 2006; 47(8):3487-95 |
References
Smaoui N, Chaabouni M, Sergeev YV, Kallel H, Li S, Mahfoudh N, Maazoul F, Kammoun H, Gandoura N, Bouaziz A, Nouiri E, M'Rad R, Chaabouni H, Hejtmancik JF, Screening of the eight BBS genes in Tunisian families: no evidence of triallelism.Invest. Ophthalmol. Vis. Sci.. 2006; 47(8):3487-95