The SMARCA4 gene homepage

General information
Gene symbol SMARCA4
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Chromosome 19
Chromosomal band p13.3
Imprinted Unknown
Genomic reference NG_011556.2
Transcript reference NM_003072.3
Exon/intron information NM_003072.3 exon/intron table
Associated with diseases CSS, CSS4, ID, RTPS2
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Perdo Medina
Total number of public variants reported 381
Unique public DNA variants reported 181
Individuals with public variants 154
Hidden variants 20
Download all this gene's data Download all data
Notes 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 June 25, 2010
Date last updated February 26, 2024
Version SMARCA4:240226

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_003072.3.
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 https://www.LOVD.nl/SMARCA4
HGNC 11100
Entrez Gene 6597
PubMed articles SMARCA4
OMIM - Gene 603254
OMIM - Diseases CSS4 (MRD16)
RTPS2 (tumor, rhabdoid, predisposition syndrome, type 2 (RTPS-2))
HGMD SMARCA4
GeneCards SMARCA4
GeneTests SMARCA4
Orphanet SMARCA4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025766 19 transcript variant 3 NM_003072.3 NP_003063.2 381


Copyright & disclaimer
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