SMARCB1 gene homepage

General information
Gene symbol SMARCB1
Gene name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Chromosome 22
Chromosomal band q11.23
Imprinted Unknown
Genomic reference LRG_520
Transcript reference NM_001007468.1, NM_003073.3
Associated with diseases CSS3, RTPS1, SWNTS1
Citation reference(s) -
Curators (1) Despoina Kalfakakou
Total number of public variants reported 87
Unique public DNA variants reported 27
Individuals with public variants 90
Hidden variants 0
Date created May 20, 2020
Date last updated June 05, 2020
Version SMARCB1:200605

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
HGNC 11103
Entrez Gene 6598
PubMed articles SMARCB1
OMIM - Gene 601607
OMIM - Diseases CSS3 (Coffin-Siris syndrome 3)
RTPS1 (Rhabdoid tumor predisposition syndrome 1)
SWNTS1 (Schwannomatosis-1, susceptibility to)


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000206 22 transcript variant 1 NM_003073.3 NP_003064.2 87
00000207 22 transcript variant 2 NM_001007468.1 NP_001007469.1 87


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