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.

13 entries on 1 page. Showing entries 1 - 13.
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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     
+/. 3 c.1115_1116del r.(?) p.(Phe372*) - pathogenic g.123664162_123664163del g.122743007_122743008del F372fsX373 - BBS12_000008 - {PMID:Waters 2015:25564561), Journal: Waters 2015 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.1115_1116del r.(?) p.(Phe372Ter) - pathogenic g.123664162_123664163del g.122743007_122743008del BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*) - BBS12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1115_1116del r.(?) p.(Phe372Ter) - VUS g.123664162_123664163del g.122743007_122743008del BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*) - BBS12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. - c.1115_1116del r.(?) p.(Phe372Ter) - pathogenic g.123664162_123664163del - BBS12(NM_001178007.1):c.1114_1115del (p.(Phe372Ter)), BBS12(NM_001178007.1):c.1115_1116delTT (p.F372*) - BBS12_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 2 c.1115_1116del r.(?) p.(Phe372Ter) - likely pathogenic g.123664162_123664163del g.122743007_122743008del c.1114_1115del - BBS12_000008 no variant 2nd chromosome PubMed: Bravo-Gil 2017 - - Germline - - - 0 - Nereida Bravo Gil
+?/. 3 c.1115_1116del r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163del - c.1114delTT - BBS12_000008 - PubMed: Muller-2010, PubMed: Stoetzel 2007 - - Germline - - - 0 - LOVD
+?/. - c.1115_1116del r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163del g.122743007_122743008del c.1115_1116delTT, p.Val465Ala:c.1394T/C (alleles in trans) - BBS12_000008 - PubMed: Hariri 2018 - - Germline ? - - 0 - LOVD
+?/. 3 c.1115_1116del r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163del - c.1115_1116delTT/p.(Phe372fs*1) - BBS12_000008 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - LOVD
+?/. 3 c.1115_1116del r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163del - c.1115_1116delTT/p.(Phe372fs*1) - BBS12_000008 - PubMed: Alvarez-Satta-2014 - - Germline - - - 0 - LOVD
+?/. - c.1115_1116del r.(?) p.(Phe372*) - likely pathogenic g.123664162_123664163del g.122743007_122743008del BBS12, variant 1: c.1115_1116del/p.F372*, variant 2: c.1237C>G/p.L413V - BBS12_000008 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+/. 3 c.1115_1116del r.(?) p.(Phe372*) - pathogenic (recessive) g.123664162_123664163del - c.[1115_1116del];[1893_1894del] - BBS12_000008 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.1115_1116del r.(?) p.(Phe372*) - pathogenic (recessive) g.123664162_123664163del - c.[1115_1116del];[1502C>T] - BBS12_000008 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
+/. 3 c.1115_1116del r.(?) p.(Phe372*) - pathogenic (recessive) g.123664162_123664163del - c.[1115_1116del];[1502C>T] - BBS12_000008 - PubMed: Mary-2019 - - Germline - - - 0 - LOVD
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