The MKS1 gene homepage

General information
Gene symbol MKS1
Gene name Meckel syndrome, type 1
Chromosome 17
Chromosomal band q21-q24
Imprinted Unknown
Genomic reference NC_000017.10
Transcript reference NM_017777.3
Exon/intron information NM_017777.3 exon/intron table
Associated with diseases BBS1, BBS13, ID, JBTS, JBTS28, MKS1
Citation reference(s) PubMed: Kyttala 2006
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 329
Unique public DNA variants reported 125
Individuals with public variants 303
Hidden variants 14
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated November 29, 2023
Version MKS1:231129

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_017777.3.
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
External URL Finnish Disease Database (FinDis)
HGNC 7121
Entrez Gene 54903
PubMed articles MKS1
OMIM - Gene 609883
OMIM - Diseases BBS1 (Bardet-Biedl syndrome, type 1 (BBS-1))
BBS13 (Bardet-Biedl syndrome, type 13 (BBS-13))
JBTS28 (Joubert syndrome 28)
MKS1 (Meckel syndrome, type 1 (MKS-1, Meckel-Gruber syndrome))
GeneCards MKS1
GeneTests MKS1
Orphanet MKS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000034 17 Meckel syndrome, type 1, transcript variant 2 NM_017777.3 NP_001159399.1 329

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