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.

4 entries on 1 page. Showing entries 1 - 4.
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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.1055A>C r.(?) p.(Gln352Pro) Unknown - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 706Z PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
+?/. - c.1055A>C r.(?) p.(Gln352Pro) Unknown - likely pathogenic g.123664102A>C g.122742947A>C NM_152618.2:1055A>C (Gln352Pro) - BBS12_000098 - PubMed: Haer-Wigman 2017 - - Germline - - - 0 - DNA SEQ-NG - gene panel ? 706Z PubMed: Haer-Wigman 2017 patient - no Netherlands - - 0 - - 1 LOVD
+/. 3 c.1055A>C r.(?) p.(Gln352Pro) Parent #1 - pathogenic (recessive) g.123664102A>C - c.[1055A>C];[1055A>C] - BBS12_000098 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ? - France - - 0 - - 1 LOVD
+/. 3 c.1055A>C r.(?) p.(Gln352Pro) Parent #2 - pathogenic (recessive) g.123664102A>C - c.[1055A>C];[1055A>C] - BBS12_000098 - PubMed: Mary-2019 - - Germline - - - 0 - DNA SEQ - - retinal disease - PubMed: Mary 2019 Fetus ? - France - - 0 - - 1 LOVD
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