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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) Unknown - pathogenic g.122775864_122775867del g.121854709_121854712del - - BBS7_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.712_715del r.(?) p.(Arg238GlufsTer59) Both (homozygous) - pathogenic (recessive) g.122775864_122775867del g.121854709_121854712del 712_715delAGAG - BBS7_000024 - PubMed: Ece Solmaz 2015 - - Germline - - - 0 - DNA SEQ-NG - gene panel retinal disease Pat9 PubMed: Ece Solmaz 2015 patient - - Turkey - - 0 - - 1 LOVD
+/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) Both (homozygous) - pathogenic g.122775862_122775865del - 711_714delGAGA (R238fsX296) - BBS7_000024 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Turkey - - 0 - - 1 LOVD
+?/. 7 c.712_715del r.(?) p.(Arg238Glufs*59) Unknown - likely pathogenic g.122775862_122775865del - p.[R238EfsX59]+ - BBS7_000024 - PubMed: Bin-2009 - - Germline - - - 0 - DNA, RNA SEQ, RT-PCR - - retinal disease - PubMed: Bin-2009 - F - - Peruvian - 0 - - 1 LOVD
+?/. - c.712_715del r.(?) p.(Arg238Glufs*59) Parent #1 - likely pathogenic g.122775864_122775867del g.121854709_121854712del BBS7, variant 1: c.712_715del/p.R238Efs*59, variant 2: c.790G>A/p.G264R - BBS7_000024 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 100 PubMed: Weisschuh 2020 Filing key number: 47, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - 0 - - 1 LOVD
+?/. - c.2023_2029del r.(?) p.(Thr675Phefs*3) Unknown - likely pathogenic g.122747139_122747145del g.121825984_121825990del - - BBS7_000024 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
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