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.

14 entries on 1 page. Showing entries 1 - 14.
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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.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. - c.110A>G r.(?) p.(Tyr37Cys) - pathogenic g.10394053T>C g.10413405T>C MKKS(NM_018848.3):c.110A>G (p.Y37C) - MKKS_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C g.10413405T>C - - MKKS_000005 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic (recessive) g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Katsanis-2001 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Muller-2010, Stone 2000 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:Y37C - MKKS_000005 - PubMed: Eichers-2009, Katsanis 2002 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - BBS6:c.110A>G - MKKS_000005 - PubMed: Feuillan-2011 - - Germline - - - 0 - LOVD
+?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - likely pathogenic g.10394053T>C - c.110A>G - MKKS_000005 - PubMed: Schaefer-2011 - - Germline - - - 0 - LOVD
?/. 3 c.110A>G r.(?) p.(Tyr37Cys) - VUS g.10394053T>C - BBS6:p.[M1I];[Y37C] - MKKS_000005 - PubMed: Scheidecker 2015 - - Germline - - - 0 - LOVD
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