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     
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[=] - BBS12_000133 normal 2nd chromosome PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+/. 3 c.1064G>A r.(?) p.(Arg355Gln) - pathogenic g.123664111G>A - [R355Q]+[R355Q] - BBS12_000133 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - [p.M390R];[p.N524del] - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
+?/. 3 c.1064G>A r.(?) p.(Arg355Gln) - likely pathogenic g.123664111G>A - M390R/E384X - BBS12_000133 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
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