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.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C g.10413448T>C c.67T>C / g.10394096A>G - MKKS_000048 - Journal: Lim 2014 - - Germline no - - 0 - Marianne Vos (LOVD-team)
-?/. 3 c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C g.10413448T>C MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G) - MKKS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.67A>G r.(?) p.(Arg23Gly) - likely benign g.10394096T>C - MKKS(NM_018848.3):c.67A>G (p.(Arg23Gly), p.R23G) - MKKS_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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