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.

4 entries on 1 page. Showing entries 1 - 4.
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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     
+?/. - c.1531_1539del r.(?) p.(Gln511_Gln513del) - likely pathogenic g.123664578_123664586del - BBS12(NM_001178007.1):c.1531_1539delCAGATGCAA (p.Q511_Q513del) - BBS12_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1531_1539del r.(?) p.(Gln511_Gln513del) ACMG likely pathogenic g.123664578_123664586del g.122743423_122743431del BBS12 c.1531_1539del, p.(Gln511_Gln513del) - BBS12_000086 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - 0 - LOVD
+?/. 3 c.1531_1539del r.(?) p.(Gln511_Gln513del) - likely pathogenic g.123664578_123664586del - c.1531_1539delCAGATGCAA - BBS12_000086 - PubMed: Duelund Hjortshoj-2010 - - Germline - - - 0 - LOVD
+/. 2 c.1531_1539del c.1531_1539del p.(Gln511_Gln513del) ACMG pathogenic g.123664578_123664586del g.122743423_122743431del BBS12 c.1531_1539del, p.(Gln511_Gln513del) - BBS12_000086 homozygous PubMed: Manara 2019 - rs752762669 Germline yes - - 0 - LOVD
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