The MKKS gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol MKKS
Gene name McKusick-Kaufman syndrome
Chromosome 20
Chromosomal band p12
Imprinted Unknown
Genomic reference NG_009109.1
Transcript reference NM_170784.2
Exon/intron information NM_170784.2 exon/intron table
Associated with diseases BBS-6, ID, MKKS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 190
Unique public DNA variants reported 84
Individuals with public variants 107
Hidden variants 11
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created March 28, 2012
Date last updated October 19, 2021
Version MKKS:211019

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_170784.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL https://www.LOVD.nl/MKKS
HGNC 7108
Entrez Gene 8195
PubMed articles MKKS
OMIM - Gene 604896
OMIM - Diseases BBS-6 (Bardet-Biedl syndrome, type 6 (BBS-6))
MKKS (McKusick-Kaufman syndrome (MKKS))
HGMD MKKS
GeneCards MKKS
GeneTests MKKS
Orphanet MKKS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00024048 20 transcript variant 2 NM_170784.2 NP_740754.1 190


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