All variants in the MKKS gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_170784.2 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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     
+?/. 3 c.973A>C r.(?) p.(Thr325Pro) - likely pathogenic g.10393190T>G - BBS6:T325P - MKKS_000113 - PubMed: Badano-2003 - - Germline - - - 0 - LOVD
+?/. 3 c.973A>C r.(?) p.(Thr325Pro) - likely pathogenic g.10393190T>G - BBS6:T325P - MKKS_000113 - PubMed: Eichers-2009, Beales 2003 - - Germline - - - 0 - LOVD
Legend   How to query