Full data view for gene BBS7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176824.2 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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     
+/. - c.878A>C r.(?) p.(Gln293Pro) Maternal (confirmed) - pathogenic g.122770055T>G g.121848900T>G - - BBS7_000059 - PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS AR634-03 PubMed: Lindstrand 2016 - F no United States - - 0 - - 1 LOVD
+/. 9 c.878A>C r.(?) p.(Gln293Pro) Both (homozygous) - pathogenic g.122770055T>G - c.878A>C(H) - BBS7_000059 Family AR14 (A2824) has previously been published for a heterozygous change in BBS12 (p.G540D) present in individual ‘-04’ (but not ‘-08’) by Stoetzel et al. 2007 PubMed: Janssen-2011 - - Germline - 0.046 - 0 - DNA SEQ, HD - SEQ or HD retinal disease AR14(A2824)-4 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
+?/. 9 c.878A>C r.(?) p.(Gln293Pro) Unknown - likely pathogenic g.122770055T>G - c.878A>C(h) - BBS7_000059 unknown variant 2nd chromosome PubMed: Janssen-2011 - - Germline - 4.6% ; absent in 96 controls - 0 - DNA SEQ - - retinal disease AR634(A2862)-II1 PubMed: Janssen-2011 - - - - Northern-Europe - 0 - - 1 LOVD
Legend   How to query