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.

2 entries on 1 page. Showing entries 1 - 2.
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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.849+1G>T r.spl p.? Both (homozygous) - pathogenic (recessive) g.122774110C>A g.121852955C>A g.17543G>T - BBS7_000049 - - - - Germline - - - 0 - DNA SEQ-NG-I Blood WES and Sanger BBS7 - - - M yes Turkey - 05y 0 - - 1 Evren Gümüş
+?/. - c.849+1G>T r.spl p.(?) Both (homozygous) - likely pathogenic g.122774110C>A g.121852955C>A BBS7* (NM_176824) (LOVD#0000638713), c.849+1G > T, Splice site - BBS7_000049 homozygous PubMed: Gumus 2021 - - Germline ? - - 0 - DNA SEQ-NG-I blood whole exome sequencing retinal disease 4 PubMed: Gumus 2021 - M - Turkey - - 0 - - 1 LOVD
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