Full data view for gene BBS12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Parent #2 - likely pathogenic g.123664084T>C - c.1037T>C - BBS12_000120 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - white - 0 - - 1 LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Unknown - VUS g.123664084T>C - [p.L125R] - BBS12_000120 normal 2nd chromosome PubMed: Imhoff-2011 - - Unknown - - - 0 - DNA PCR - - retinal disease - PubMed: Imhoff-2011 additional mutation - yes - Dene - 0 - - 1 LOVD
?/. 3 c.1037T>C r.(?) p.(Ile346Thr) Unknown - VUS g.123664084T>C - p.I346T - BBS12_000120 - PubMed: Scheidecker 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 cone-rod distrophy M - - - - 0 - - 1 LOVD
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