Mendelian Diseases
Multifactorial Diseases
Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Bardet-Biedl syndrome 2

OMIM:615981
Mode of inheritance:Autosomal recessive
Disease classification:Congenital malformations and chromosomal abnormalities


Mutations

Gene SymbolBBS2
Reference transcriptNM_031885.3
DNA Changec.98C>A
A.A. Changep.Ala33Asp
Exon/Intronexon 1
Mutation Typesubstitution
ReferenceShevach 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.
Gene SymbolBBS2
Reference transcriptNM_031885.3
DNA Changec.401C>G
A.A. Changep.Pro134Arg
Exon/Intronexon 3
Mutation Typesubstitution
ReferenceShevach 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.