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.

4 entries on 1 page. Showing entries 1 - 4.
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.87_88del r.(?) p.(His29Glnfs*12) Unknown ACMG pathogenic g.122789150_122789151del - c.87_88delCA - BBS7_000055 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - 0 - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - 0 - - 1 Global Variome, with Curator vacancy
+/. - c.87_88del r.(?) p.(His29GlnfsTer12) Both (homozygous) - pathogenic g.122789153_122789154del g.121867998_121867999del c.87_88delCA - BBS7_000055 - PubMed: Lindstrand 2016 - - Germline - - - 0 - DNA arrayCGH, PCRlr, SEQ-NG - - BBS 44/311 PubMed: Lindstrand 2016 - M no United States - - 0 - - 1 LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) Both (homozygous) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/3 PubMed: Lindstrand-2014 - M - Israel Israeli - 0 - - 1 LOVD
+/. 2 c.87_88del r.(?) p.(His29Glnfs*12) Both (homozygous) - pathogenic g.122789150_122789151del - c.87_88delCA(p.His29Glnfs*12);hom - BBS7_000055 - PubMed: Lindstrand-2014 - - Germline - - - 0 - DNA arrayCGH, SEQ, TaqMan - - retinal disease 44/4 PubMed: Lindstrand-2014 - F - Israel Israeli - 0 - - 1 LOVD
Legend   How to query