Full data view for gene BBS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024649.4 transcript reference sequence.

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. 3i c.124+1G>A r.spl? p.? Both (homozygous) - pathogenic g.66278561G>A - IVS2+1g/a - BBS1_000172 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Saudi Arabia - - - - - 1 LOVD
+/. 3i c.124+1G>A r.spl? p.? Both (homozygous) - pathogenic g.66278561G>A - IVS2+1g/a - BBS1_000172 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes Saudi Arabia - - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Parent #1 - likely pathogenic g.66278561G>A - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Parent #1 - likely pathogenic g.66278561G>A - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 2 unaffected siblings screened - no Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 3i c.124+1G>A r.125_159del p.L43Gfs*44 Both (homozygous) - likely pathogenic g.66278561G>A - c.124+1G>A r.125_159del p.(L43Gfs*44) - BBS1_000172 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
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