Full data view for gene BBS4

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_033028.4 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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.157-2A>G r.spl? p.? Both (homozygous) ACMG pathogenic g.73004583A>G g.72712242A>G - - BBS4_000002 - PubMed: Trujillano 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - - BBS4 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - 1 Daniel Trujillano
+/. - c.157-2A>G r.spl? p.? Unknown - pathogenic g.73004583A>G - BBS4(NM_033028.5):c.157-2A>G - BBS4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.157-2A>G r.spl p.? Unknown - likely pathogenic g.73004583A>G g.72712242A>G - - BBS4_000002 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 13DG1032 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - pathogenic g.73004583A>G - IVS3-2a/g - BBS4_000002 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - - - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - yes United Arab Emirates - - - - - 1 LOVD
?/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - VUS g.73004583A>G - c.157-2A>G - BBS4_000002 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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
+?/. 3i c.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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.157-2A>G r.157_220del p.? Both (homozygous) - likely pathogenic g.73004583A>G - c.157-2A>G r.157_220del p.(A53Hfs*2) - BBS4_000002 - 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
+/. 3i c.157-2A>G r.spl? p.? Both (homozygous) - pathogenic g.73004583A>G - c.IVS3-2A>G(H) - BBS4_000002 - PubMed: Janssen-2011 - - Germline - 0.017 - - - DNA SEQ, HD - SEQ or HD retinal disease KK44(A2884)-8 PubMed: Janssen-2011 - - - Saudi Arabia - - - - - 1 LOVD
+/. - c.157-2A>G r.spl p.? Both (homozygous) - pathogenic g.73004583A>G g.72712242A>G BBS4 IVS3-2A>G - BBS4_000002 no nucleotide annotation, extrapolated from protein, sequence and databases; homozygous PubMed: Katsanis 2002 - - Germline yes 0/108 ethnically matched control chromosomes - - - DNA STR, SEQ blood - BBS KK021 PubMed: Katsanis 2002 family KK021 - - - Saudi Arabian - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (interacting with LOVD using scripts to download data) is strictly prohibited.
Use our APIs to retrieve data.