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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+?/. 11i c.951+58C>T r.951_952ins951+1_951+58 p.G318Vfs*62 Parent #2 - likely pathogenic g.66291105C>T - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000210 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - 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
+?/. 11i c.951+58C>T r.951_952ins951+1_951+59 p.G318Vfs*62 Parent #2 - likely pathogenic g.66291105C>T - c.[124+1G>A][951+58C>T] r.[125_159del, 951_952ins951+1_951+58] p.[(L43Gfs*44), (G318Vfs*62)] - BBS1_000210 - PubMed: Abu-Safieh-2012, Abu-Safieh 2010 - - Germline - - - - - 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
+?/. 11i c.951+58C>T r.spl? p.(G318Vfs*62) Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T p.(G318Vfs*62) - BBS1_000210 - 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 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 11i c.951+58C>T r.spl? p.(G318Vfs*62) Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T p.(G318Vfs*62) - BBS1_000210 - 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 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 11i c.951+58C>T r.spl? p.(G318Vfs*62) Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T p.(G318Vfs*62) - BBS1_000210 - 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 1 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 11i c.951+58C>T r.951_952ins951+1_951+58 p.G318Vfs*62 Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62) - BBS1_000210 - 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 5 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 11i c.951+58C>T r.951_952ins951+1_951+58 p.G318Vfs*62 Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62) - BBS1_000210 - 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 5 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 11i c.951+58C>T r.951_952ins951+1_951+58 p.G318Vfs*62 Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62) - BBS1_000210 - 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
+?/. 11i c.951+58C>T r.951_952ins951+1_951+58 p.G318Vfs*62 Both (homozygous) - likely pathogenic g.66291105C>T - c.951+58C>T r.951_952ins951+1_951+58 p.(G318Vfs*62) - BBS1_000210 - 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
?/. 11i c.951+58C>T r.spl? p.? Unknown - VUS g.66291105C>T - p.M390R - BBS1_000210 - PubMed: Scheidecker 2015 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Scheidecker 2015 novel mutation, cone-rod distrophy M - - - - - - - 1 LOVD
+/. - c.951+58C>T r.spl p.(?) Both (homozygous) ACMG pathogenic g.66291105C>T g.66523634C>T BBS1, c.951+58C>T, p.?, Triallelism - BBS1_000210 - PubMed: Perea-Romero 2021 - - Germline yes - - - - DNA ? - whole exome sequencing retinal disease RP-2634 PubMed: Perea-Romero 2021 - - - Spain - - - - - 1 LOVD
+?/. - c.951+58C>T r.951_952ins951+1_951+58 p.(Gly318Valfs*62) Both (homozygous) - likely pathogenic g.66291105C>T g.66523634C>T BBS1 c.951+58C>T, p.(Gly318Valfs*62) - BBS1_000210 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - - - DNA arraySNP, SEQ - - BBS BBS_DG4a PubMed: Aldahmesh 2014 family BBS_DG4, individual a M yes Saudi Arabia - - - - - 1 LOVD
+?/. - c.951+58C>T r.951_952ins951+1_951+58 p.(Gly318Valfs*62) Both (homozygous) - likely pathogenic g.66291105C>T g.66523634C>T BBS1 c.951+58C>T, p.(Gly318Valfs*62) - BBS1_000210 homozygous PubMed: Aldahmesh 2014 - - Germline ? - - - - DNA arraySNP, SEQ - - BBS BBS_DG4b PubMed: Aldahmesh 2014 family BBS_DG4, individual b F yes Saudi Arabia - - - - - 1 LOVD
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