Full data view for gene BBS12

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

8 entries on 1 page. Showing entries 1 - 8.
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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.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T g.122742955C>T - - BBS12_000099 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 10001098 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - - - DNA arraySNP, SEQ blood - retinal disease - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - - - Gypsy - - - - 5 LOVD
+/. 2 c.1063C>T c.1063C>T p.(Arg355*) Both (homozygous) ACMG pathogenic g.123664110C>T g.122742955C>T BBS12 c.1063C>T, p.(Arg355*) - BBS12_000099 homozygous PubMed: Manara 2019 - rs121918327 Germline ? - - - - DNA SEQ-NG, SEQ blood, saliva panel containing 18 BBS genes retinal disease 6 PubMed: Manara 2019 - F - - - - - - - 1 LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T g.122742955C>T BBS12;NM_001178007.1;;c.[1063C>T];[1063C>T];p.[(Arg355*)];[(Arg355*)];(mumishet) - BBS12_000099 homozygous; sister is also homozygous PubMed: Jiman 2020 - - Germline yes - - - - DNA SEQ-NG-I - 105 genes panel retinal disease 41 PubMed: Jiman 2020 - F - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 3 c.1063C>T r.(?) p.(Arg355*) Both (homozygous) - likely pathogenic g.123664110C>T - c.1063C>T - BBS12_000099 - PubMed: Schaefer-2011 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Schaefer-2011 - - - France french - - - - 1 LOVD
+?/. - c.1063C>T r.(?) p.(Arg355*) Parent #1 - likely pathogenic g.123664110C>T g.122742955C>T BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355* - BBS12_000099 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 80 PubMed: Weisschuh 2020 Filing key number: 41, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+/. 3 c.1063C>T r.(?) p.(Arg355*) Parent #1 - pathogenic (recessive) g.123664110C>T - c.[1063C>T];[1063C>T] - BBS12_000099 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ultra sound at 26 gestation weeks M - France - - - - - 1 LOVD
+/. 3 c.1063C>T r.(?) p.(Arg355*) Parent #2 - pathogenic (recessive) g.123664110C>T - c.[1063C>T];[1063C>T] - BBS12_000099 - PubMed: Mary-2019 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ultra sound at 26 gestation weeks M - France - - - - - 1 LOVD
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