BBS2
Gene name: Bardet-Biedl syndrome 2OMIM ID: 606151
Chromosome location: 16q12.2
Mutations
| Disease/Phenotype | Bardet-Biedl syndrome 2 |
|---|---|
| Reference transcript | NM_031885.3 |
| DNA Change | c.401C>G |
| A.A. Change | p.Pro134Arg |
| Exon/Intron | exon 3 |
| Mutation Type | substitution |
| Reference | Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol. 2015 Mar;133(3):312-8. |
| Disease/Phenotype | Bardet-Biedl syndrome 2 |
|---|---|
| Reference transcript | NM_031885.3 |
| DNA Change | c.98C>A |
| A.A. Change | p.Ala33Asp |
| Exon/Intron | exon 1 |
| Mutation Type | substitution |
| Reference | Shevach E, Ali M, Mizrahi-Meissonnier L, McKibbin M, El-Asrag M, Watson CM, Inglehearn CF, Ben-Yosef T, Blumenfeld A, Jalas C, Banin E, Sharon D.
Association between missense mutations in the BBS2 gene and nonsyndromic retinitis pigmentosa. JAMA Ophthalmol. 2015 Mar;133(3):312-8. |