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     
-?/. 3 c.1380G>C r.(=) p.(=) - likely benign g.123664427G>C g.122743272G>C - - BBS12_000040 - PubMed: Almomani 2011 - rs13135766 Germline - - - 0 - Gerard C.P. Schaafsma
-/. - c.1380G>C r.(?) p.(Val460=) - benign g.123664427G>C g.122743272G>C BBS12(NM_001178007.1):c.1380G>C (p.V460=) - BBS12_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1380G>C r.(?) p.(Val460=) - benign g.123664427G>C g.122743272G>C BBS12(NM_001178007.1):c.1380G>C (p.V460=) - BBS12_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1380G>C r.(?) p.(Val460=) - benign g.123664427G>C g.122743272G>C BBS12(NM_001178007.1):c.1380G>C (p.V460=) - BBS12_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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