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     
+?/. - c.1055A>C r.(?) p.(Gln352Pro) - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD
+?/. - c.1055A>C r.(?) p.(Gln352Pro) - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - LOVD
+/. 3 c.1055A>C r.(?) p.(Gln352Pro) - pathogenic (recessive) g.123664102A>C - c.[1055A>C];[1055A>C] - BBS12_000098 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.1055A>C r.(?) p.(Gln352Pro) - pathogenic (recessive) g.123664102A>C - c.[1055A>C];[1055A>C] - BBS12_000098 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
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