All variants in the BBS12 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_001178007.1 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/. 3 c.1198G>A r.(?) p.(Val400Met) - pathogenic g.123664245G>A - [V400M;R674C]+[V400M;R674C] - BBS12_000135 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.1198G>A r.(?) p.(Val400Met) - likely pathogenic g.123664245G>A - [p.K243IfsX15];[p.K243IfsX15] - BBS12_000135 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
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