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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
-?/. - c.355G>A r.(?) p.(Gly119Ser) - likely benign g.123663402G>A g.122742247G>A BBS12(NM_152618.3):c.355G>A (p.G119S) - BBS12_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.355G>A r.(?) p.(Gly119Ser) - VUS g.123663402G>A g.122742247G>A - - BBS12_000046 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
-?/. 3 c.355G>A r.(?) p.(Gly119Ser) - likely benign g.123663402G>A - [G119S;Y263H]+[=] - BBS12_000046 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+/. 3 c.355G>A r.(?) p.(Gly119Ser) - pathogenic g.123663402G>A - c.355G>A - BBS12_000046 - PubMed: Chen-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.355G>A r.(?) p.(Gly119Ser) - likely pathogenic g.123663402G>A - [p.Y317C];[p.Y317C] - BBS12_000046 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
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