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 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     

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.959T>A r.(?) p.(Leu320Gln) Both (homozygous) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
+?/. 3 c.959T>A r.(?) p.(Leu320Gln) Both (homozygous) - likely pathogenic g.123664006T>A - c.959T>A p.(L320Q) - BBS12_000132 - PubMed: Abu-Safieh-2012 - - Germline - 0/96 ethnically matched controls - 0 - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012 2 unaffected siblings screened - yes Saudi Arabia Arab - 0 - - 1 LOVD
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