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.

2 entries on 1 page. Showing entries 1 - 2.
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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.1394T>C r.(?) p.(Val465Ala) - likely pathogenic g.123664441T>C g.122743286T>C c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans) - BBS12_000123 - PubMed: Hariri 2018 - - Germline ? - - 0 - LOVD
+?/. 3 c.1394T>C r.(?) p.(Val465Ala) - likely pathogenic g.123664441T>C - c.1394T>C - BBS12_000123 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
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