Full data view for gene BBS7

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_176824.2 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     

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Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) Unknown - pathogenic g.122774232C>T - c.728G>A - BBS7_000071 - PubMed: Wang-2013 - - Unknown - - - 0 - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 patient carry homozygous novel missense mutation in other retinal disease genes. BBS - no - - - 0 - - 1 Julia Lopez
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 Father M yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 Patient (mother) F yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - M yes - - - 0 - - 1 LOVD
+?/. 8 c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T - p.Cys243Tyr - BBS7_000071 - PubMed: Knopp 2015 - - Germline - - - 0 - DNA arraySNP, SEQ-NG, PCR blood - retinal disease - PubMed: Knopp 2015 - F yes - - - 0 - - 1 LOVD
+/. 8 c.728G>A r.(?) p.Cys243Tyr Both (homozygous) - pathogenic g.122774232C>T - p.C243Y - BBS7_000071 - PubMed: Hirano 2015 - - Germline - - - 0 - DNA, RNA SEQ, PCR blood - retinal disease - PubMed: Hirano 2015 - F no Japan Japanese - 0 - - 1 LOVD
+?/. - c.728G>A r.(?) p.(Cys243Tyr) Both (homozygous) - likely pathogenic g.122774232C>T g.121853077C>T BBS7 p.C243Y, homo - BBS7_000071 no c. position written in publication, probable position given - RCV001384254.1 PubMed: Hirano 2020 - - Germline ? - - 0 - DNA SEQ-NG-I, SEQ blood whole exome sequencing retinal disease 5 PubMed: Hirano 2020 - F no Japan - - 0 - - 1 LOVD
+/. 8 c.728G>A r.(?) p.(Cys243Tyr) Paternal (confirmed) ACMG pathogenic g.122774232C>T g.121853077C>T BBS7 c.728G > A, p.C243Y - BBS7_000071 heterozygous PubMed: Meng 2021 - rs727503821 Germline yes - - 0 - DNA SEQ-NG-I blood 131 known inherited retinal disease genes retinal disease F8-II:1 PubMed: Meng 2021 - F no China - - 0 - - 1 LOVD
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