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.

7 entries on 1 page. Showing entries 1 - 7.
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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.? r.(?) p.? - likely pathogenic (recessive) g.? - BBS6:C499S - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic (recessive) g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.? - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - LOVD
+/. - c.? r.(?) p.? - pathogenic (recessive) g.10393205T>A - g.10393205T>A* - MKKS_000099 - PubMed: Anasagasti-2013 - - Germline yes - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - BBS6:Q147X - DNMT3B_000000 - PubMed: Eichers-2009, Katsanis 2001 - - Germline - - - 0 - LOVD
+/. - c.? r.(?) p.F94SfsX9 - pathogenic g.? - [F94SfsX9]+[F94SfsX9] - DNMT3B_000000 - PubMed: Billingsley-2010 - - Germline - - - 0 - LOVD
+?/. - c.? r.(?) p.? - likely pathogenic g.? - [p.T501M];[p.R525H] - DNMT3B_000000 - PubMed: Deveault-2011 - - Unknown - - - 0 - LOVD
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