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 NM_001178007.1 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Maternal (inferred) - likely pathogenic g.123663310T>G - (c.1115_1116delTT; p.Phe372X) - BBS12_000129 - PubMed: Deveault-2011 - - Unknown - - - 0 - DNA PCR, SEQ - - retinal disease - PubMed: Deveault-2011 - F - - white - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease B63 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease B179 PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - c.263T>G/p.(Leu88Arg) - BBS12_000129 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - DNA SEQ-NG - - retinal disease FRPN15a PubMed: Alvarez-Satta-2014 - - - Spain Spanish - 0 - - 1 LOVD
+?/. 3 c.263T>G r.(?) p.(Leu88Arg) Unknown - likely pathogenic g.123663310T>G - p.(Leu88Arg) - BBS12_000129 - PubMed: Castro Sanchez 2015 - - Germline - - - 0 - DNA SEQ blood - retinal disease - PubMed: Castro Sanchez 2015 Families FRPN15 and FRPN65 were previously referred to as 89 and 88, respectively, by Billingsley et a F - Spain Spanish - 0 - - 1 LOVD
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