MKS1 gene homepage

General information
Gene symbol MKS1
Gene name Meckel syndrome, type 1
Chromosome 17
Chromosomal band q21-q24
Imprinted Unknown
Genomic reference NG_013032.1
Transcript reference NM_017777.3
Exon/intron information NM_017777.3 exon/intron table
Associated with diseases BBS-1, BBS-13, ID, MKS-1
Citation reference(s) Kyttälä et al. 2006
Refseq URL Genomic reference sequence
Curators (1) Jonna Tallila
Total number of public variants reported 111
Unique public DNA variants reported 78
Individuals with public variants 17
Hidden variants 13
Download all this gene's data Download all data
Notes More mutations will be added soon.

The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nº 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated March 23, 2020
Version MKS1:200323

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

Active transcripts




NCBI ID     

NCBI Protein ID     

00000034 17 Meckel syndrome, type 1, transcript variant 2 NM_017777.3 NP_001159399.1 111

Copyright & disclaimer
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