SMCHD1 gene homepage

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
General information
Gene symbol SMCHD1
Gene name structural maintenance of chromosomes flexible hinge domain containing 1
Chromosome 18
Chromosomal band p11.32
Imprinted Not imprinted
Genomic reference NG_031972.1
Transcript reference NM_015295.2
Exon/intron information NM_015295.2 exon/intron table
Associated with diseases BAMS, FSHD-2
Citation reference(s) -
Refseq URL Coding DNA reference sequence
Curators (1) Richard Lemmers
Total number of public variants reported 581
Unique public DNA variants reported 368
Individuals with public variants 540
Hidden variants 6
Notes This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Date created May 21, 2012
Date last updated July 14, 2020
Version SMCHD1:200714

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_015295.2.
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
HGNC 29090
Entrez Gene 23347
PubMed articles SMCHD1
OMIM - Gene 614982
OMIM - Diseases BAMS (arhinia, choanal atresia, microphthalmia, Bosma type (BAMS))
FSHD-2 (dystrophy, muscular, facioscapulohumeral, type 2 (FSHD-2))
GeneCards SMCHD1
GeneTests SMCHD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000205 18 structural maintenance of chromosomes flexible hinge domain containing 1 NM_015295.2 NP_056110.2 581

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2012-2020. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.