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.

4 entries on 1 page. Showing entries 1 - 4.
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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.476C>T r.(?) p.(Pro159Leu) - likely pathogenic g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. 3 c.476C>T r.(?) p.(Pro159Leu) - unclassified g.123663523C>T - c.476C>T - BBS12_000116 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) - VUS g.123663523C>T - [p.E61K] - BBS12_000116 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
?/. 3 c.476C>T r.(?) p.(Pro159Leu) - VUS g.123663523C>T - p.P159L - BBS12_000116 - PubMed: Scheidecker 2015 - - Germline - - - 0 - LOVD
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