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.

23 entries on 1 page. Showing entries 1 - 23.
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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.? r.(?) p.? - likely pathogenic g.? - N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - G630fsX638/N506K/DelP507 - TRAPPC11_000000 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.K243IfsX15 - pathogenic g.? - [K243IfsX15]+[K243IfsX15] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.D480MfsX3 - pathogenic g.? - [D480MfsX3]+[D480MfsX3] - TRAPPC11_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
?/. - c.? r.(?) p.? - VUS g.? - [p.T549I] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.L779Q] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.P425L] - TRAPPC11_000000 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.C91W];[p.V707XfsX1] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.V400M; p.R674C];[p.V400M; p.R674C] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.S578X];[p.S578X] - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - (c.2023C > T; p.Arg675X) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
?/. - c.? r.(?) p.? - VUS g.? - (c.271dupG; p.Cys91fs) - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - M390R/E384X - TRAPPC11_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Phe372fs*1) - likely pathogenic g.? - p.(Phe372fs*1) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Asn461fs*9) - likely pathogenic g.? - p.(Asn461fs*9) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Ser631fs*7) - likely pathogenic g.? - p.(Ser631fs*7) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Gly361fs*21) - likely pathogenic g.? - p.(Gly361fs*21) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.(Thr380fs*2) - likely pathogenic g.? - p.(Thr380fs*2) - TRAPPC11_000000 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - LOVD
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