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.

3 entries on 1 page. Showing entries 1 - 3.
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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.117C>T r.(?) p.(Pro39=) - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. 3 c.117C>T r.(?) p.(Pro39=) - benign g.10394046G>A g.10413398G>A MKKS(NM_018848.3):c.117C>T (p.P39=) - MKKS_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. 3 c.117C>T r.(=) p.(=) - pathogenic g.10394046G>A - BBS6:c.117C>T - MKKS_000067 - PubMed: Hoskins-2003 - - Germline - - - 0 - LOVD
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