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	NG_013032.1
Transcript reference	NM_001165927.1, NM_017777.3, XM_005257482.1, XM_005257483.1, XM_005257484.1, XM_005257485.1, XM_005257486.1
Associated with diseases	BBS-1, BBS-13, ID, MKS-1
Citation reference(s)	-
Curators (1)	Johan T. den Dunnen
Total number of public variants reported	41
Unique public DNA variants reported	8
Individuals with public variants	32
Hidden variants	63
Date created	December 09, 2013
Date last updated	September 28, 2016
Version	MKS1:160928

Graphical displays and utilities
Graphs	Graphs displaying summary information of all variants in the database »
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	List of LSDBs for this gene The reference LOVD for this gene, if available
HGNC	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))
HGMD	MKS1
GeneCards	MKS1
GeneTests	MKS1

Active transcripts

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Operator	Column type	Example	Matches
	Text	Arg	all entries containing 'Arg'
space	Text	Arg Ser	all entries containing 'Arg' and 'Ser'
\|	Text	Arg\|Ser	all entries containing 'Arg' or 'Ser'
!	Text	!fs	all entries not containing 'fs'
^	Text	^p.(Arg	all entries beginning with 'p.(Arg'
$	Text	Ser)$	all entries ending with 'Ser)'
=""	Text	=""	all entries with this field empty
=""	Text	="p.0"	all entries exactly matching 'p.0'
!=""	Text	!=""	all entries with this field not empty
!=""	Text	!="p.0"	all entries not exactly matching 'p.0?'
combination	Text	*\|Ter !fs	all entries containing '*' or 'Ter' but not containing 'fs'
	Date	2020	all entries matching the year 2020
\|	Date	2020-03\|2020-04	all entries matching March or April, 2020
!	Date	!2020-03	all entries not matching March, 2020
<	Date	<2020	all entries before the year 2020
<=	Date	<=2020-06	all entries in or before June, 2020
>	Date	>2020-06	all entries after June, 2020
>=	Date	>=2020-06-15	all entries on or after June 15th, 2020
combination	Date	2019\|2020 <2020-03	all entries in 2019 or 2020, and before March, 2020
	Numeric	23	all entries exactly matching 23
\|	Numeric	23\|24	all entries exactly matching 23 or 24
!	Numeric	!23	all entries not exactly matching 23
<	Numeric	<23	all entries lower than 23
<=	Numeric	<=23	all entries lower than, or equal to, 23
>	Numeric	>23	all entries higher than 23
>=	Numeric	>=23	all entries higher than, or equal to, 23
combination	Numeric	>=20 <30 !23	all entries with values from 20 to 29, but not equal to 23

Some more advanced examples:

Example	Matches
Asian	all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc.
Asian !Caucasian	all entries containing 'Asian' but not containing 'Caucasian'
Asian\|African !Caucasian	all entries containing 'Asian' or 'African', but not containing 'Caucasian'
"South Asian"	all entries containing 'South Asian', but not containing 'South East Asian'

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ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00018089	17	Manually created transcript.	NM_017777.3	-	41
00009545	17	transcript variant 2	NM_001165927.1	NP_001159399.1	38
00038734	17	transcript variant X3	XM_005257484.1	XP_005257541.1	-
00038735	17	transcript variant X1	XM_005257482.1	XP_005257539.1	-
00038736	17	transcript variant X5	XM_005257486.1	XP_005257543.1	-
00038737	17	transcript variant X2	XM_005257483.1	XP_005257540.1	-
00038738	17	transcript variant X4	XM_005257485.1	XP_005257542.1	-

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2013-2025. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases. We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.

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MKS1 (Meckel syndrome, type 1)