All variants in the BBS12 gene

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.

8 entries on 1 page. Showing entries 1 - 8.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. - c.116T>C r.(?) p.(Ile39Thr) - benign g.123663163T>C g.122742008T>C BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T) - BBS12_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.116T>C r.(?) p.(Ile39Thr) - benign g.123663163T>C g.122742008T>C BBS12(NM_001178007.1):c.116T>C (p.I39T), BBS12(NM_152618.3):c.116T>C (p.I39T) - BBS12_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.116T>C r.(?) p.(Ile39Thr) - VUS g.123663163T>C g.122742008T>C - - BBS12_000044 conflicting interpretations of pathogenicity; 14 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs138036823 Germline - 14/2794 individuals - 0 - Mohammed Faruq
?/. - c.116T>C r.(?) p.(Ile39Thr) - VUS g.123663163T>C g.122742008T>C - - BBS12_000044 - PubMed: Costa 2017 - - Germline - - - 0 - LOVD
?/. - c.116T>C r.(?) p.(Ile39Thr) - VUS g.123663163T>C g.122742008T>C NM_152618.2:c.116T>C - BBS12_000044 - PubMed: Tiwari 2016 - - Germline - - - 0 - LOVD
+/. 3 c.116T>C r.(?) p.(Ile39Thr) - pathogenic (recessive) g.123663163T>C - p.Ile39Thr - BBS12_000044 - PubMed: Anasagasti-2013 - rs138036823 Germline yes <0.01 - 0 - LOVD
-/. 3 c.116T>C r.(?) p.(Ile39Thr) - benign g.123663163T>C - c.116T>C - BBS12_000044 - PubMed: Duelund Hjortshoj-2010 - - Germline - 0.01 - 0 - LOVD
+?/. 2 c.116T>C c.116T>C p.(Ile39Thr) ACMG likely pathogenic g.123663163T>C g.122742008T>C BBS12 c.116T>C, p.Ile39Thr - BBS12_000044 heterozygous PubMed: Manara 2019 - rs138036823 Germline ? - - 0 - LOVD
Legend   How to query