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.

3 entries on 1 page. Showing entries 1 - 3.
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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.1381A>C r.(?) p.(Asn461His) - benign g.123664428A>C g.122743273A>C BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H) - BBS12_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1381A>C r.(?) p.(Asn461His) - benign g.123664428A>C g.122743273A>C BBS12(NM_001178007.1):c.1381A>C (p.N461H), BBS12(NM_152618.3):c.1381A>C (p.N461H) - BBS12_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. 3 c.1381A>C r.(?) p.(Asn461His) - likely pathogenic g.123664428A>C - c.1381A>C - BBS12_000058 - PubMed: Song-2011 - rs10027479 Unknown - - - 0 - LOVD
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