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.

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     

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Remarks     

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Consanguinity     

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Age at death     

VIP     

Data_av     

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Panel size     

Owner     
+?/. - c.898C>T r.(?) p.(Gln300*) Parent #1 - likely pathogenic g.123663945C>T g.122742790C>T BBS12, variant 1: c.898C>T/p.Q300*, variant 2: c.1063C>T/p.R355* - BBS12_000154 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 80 PubMed: Weisschuh 2020 Filing key number: 41, Bardet-Biedl syndrome, no patient Ids, consecutive numbers given F - Germany - - 0 - - 1 LOVD
+/. - c.898C>T r.(?) p.(Gln300Ter) Unknown ACMG pathogenic g.123663945C>T g.122742790C>T BBS12 c.898C>T, p.Q300X - BBS12_000154 homozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - DNA SEQ-NG blood 115 genes causing different inherited kidney diseases retinal disease K105 PubMed: Zacchia 2021 - ? - (Italy) - - 0 - - 1 LOVD
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