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.

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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.1237C>G r.(?) p.(Leu413Val) - likely pathogenic g.123664284C>G g.122743129C>G BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V - BBS12_000084 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
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