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.

6 entries on 1 page. Showing entries 1 - 6.
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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     
?/. 1 c.-1503delC r.(?) p.? Unknown - VUS g.122792971delG - BBS7: c.-1503delC - BBS7_000068 - PubMed: M'hamdi-2014 - - Germline - - - 0 - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 1 c.? r.(?) p.? Unknown - pathogenic g.122792971delG - c.-1503delC - BBS7_000068 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 4 c.? r.(?) p.? Both (homozygous) - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - 0 - - 1 LOVD
+/. 4 c.? r.(?) p.? Both (homozygous) - pathogenic g.122782812A>C - 188T/G (I66M) - BBS7_000068 - PubMed: Harville-2010 - - Germline - 0/90 ethnically matched controls - 0 - DNA SEQ blood - retinal disease - PubMed: Harville-2010 - - no - North European - 0 - - 1 LOVD
?/. 19 c.*729delC r.(?) p.? Unknown - VUS g.122746286delG - BBS7: c.*729del C - BBS7_000068 - PubMed: M'hamdi-2014 - - Germline - - - 0 - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - M yes Tunisia Tunisian - 0 - - 1 LOVD
+/. 19 c.? r.(?) p.? Unknown - pathogenic g.122746286delG - c.*729del C - BBS7_000068 - PubMed: M'hamdi 2014 - - Unknown - - - 0 - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - M yes Tunisia Tunisian - 0 - - 1 LOVD
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