Full data view for gene BBS10

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_024685.3 transcript reference sequence.

10 entries on 1 page. Showing entries 1 - 10.
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.728_731del r.(?) p.(Lys243IlefsTer15) Parent #2 - likely pathogenic g.76741037_76741040del g.76347257_76347260del - - BBS10_000126 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG2094 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 2 c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741034_76741037del - c.728_731del p.(K243Ifs*15) - BBS10_000126 - PubMed: Abu-Safieh-2012, Stoetzel 2006 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Stoetzel 2006 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 2 c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741034_76741037del - c.728_731del p.(K243Ifs*15) - BBS10_000126 - PubMed: Abu-Safieh-2012, Stoetzel 2006 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Stoetzel 2006 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+?/. 2 c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741034_76741037del - c.728_731del p.(K243Ifs*15) - BBS10_000126 - PubMed: Abu-Safieh-2012, Stoetzel 2006 - - Germline - 0/96 ethnically matched controls - - - DNA, RNA arraySNP, SEQ, RT-PCR blood - retinal disease - PubMed: Abu-Safieh-2012, Stoetzel 2006 3 unaffected siblings screened - yes Saudi Arabia Arab - - - - 1 LOVD
+/. 2 c.728_731del r.(?) p.(Lys243Ilefs*15) Parent #2 - pathogenic (recessive) g.76741034_76741037del - c.[271dup];[728_731del] - BBS10_000126 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus: term at 19 gestation weeks F - France - - - - - 1 LOVD
+?/. - c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741037_76741040del g.76347257_76347260del BBS10 c.995_999delAAGA, p.Q242fs258X - BBS10_000126 errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous PubMed: White 2007 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS patient D PubMed: White 2007 Large consanguineous Omani family, patient D F yes Oman Omani - - - - 1 LOVD
+?/. - c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741037_76741040del g.76347257_76347260del BBS10 c.995_999delAAGA, p.Q242fs258X - BBS10_000126 errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous PubMed: White 2007 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS patient C PubMed: White 2007 Large consanguineous Omani family, patient C M yes Oman Omani - - - - 1 LOVD
+?/. - c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741037_76741040del g.76347257_76347260del BBS10 c.995_999delAAGA, p.Q242fs258X - BBS10_000126 errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous PubMed: White 2007 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS patient B PubMed: White 2007 Large consanguineous Omani family, patient B M yes Oman Omani - - - - 1 LOVD
+?/. - c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741037_76741040del g.76347257_76347260del BBS10 c.995_999delAAGA, p.Q242fs258X - BBS10_000126 errors in annotation, obsolete nucleotide 995, 728 in NM_024685.3, first affected amino acid is K243; homozygous PubMed: White 2007 - - Germline yes - - - - DNA arraySNP, SEQ blood - BBS patient A PubMed: White 2007 Large consanguineous Omani family, patient A M yes Oman Omani - - - - 1 LOVD
+?/. - c.728_731del r.(?) p.(Lys243Ilefs*15) Both (homozygous) - likely pathogenic g.76741037_76741040del g.76347257_76347260del BBS10 K243IfsX15 - BBS10_000126 50 families with homozygous variant, 2 heterozygous; no nucleotide annotation, extrapolated from protein and databases; founder mutation; homozygous PubMed: Fieggen 2016 - - Germline yes 50/74 BBS families (67%) homozygous, 2 heterozygous - - - DNA SEQ blood - BBS ? PubMed: Fieggen 2016 50 families with homozygous variant, 2 heterozygous M;F - South Africa black - - - - 1 LOVD
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.