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.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

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.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T g.122742955C>T - - BBS12_000099 - PubMed: Ellingford 2016 - - Germline - - - 0 - LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+/. 2 c.1063C>T c.1063C>T p.(Arg355*) ACMG pathogenic g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*) - BBS12_000099 homozygous PubMed: Manara 2019 - rs121918327 Germline ? - - 0 - LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T g.122742955C>T BBS12;NM_001178007.1;;c.[1063C>T];[1063C>T];p.[(Arg355*)];[(Arg355*)];(mumishet) - BBS12_000099 homozygous; sister is also homozygous PubMed: Jiman 2020 - - Germline yes - - 0 - LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Schaefer-2011 - - Germline - - - 0 - LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) - likely pathogenic g.123664110C>T g.122742955C>T BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355* - BBS12_000099 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+/. 3 c.1063C>T r.(?) p.(Arg355*) - pathogenic (recessive) g.123664110C>T - c.[1063C>T];[1063C>T] - BBS12_000099 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.1063C>T r.(?) p.(Arg355*) - pathogenic (recessive) g.123664110C>T - c.[1063C>T];[1063C>T] - BBS12_000099 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
Legend   How to query