Overview

Variant ID 13307
Entrez Gene ID 6595
Gene SMARCA2 (GeneCards)
Location hg19 9:2167798-2167798
hg38 9:2167798-2167798
Disease Asymptomatic
Method HiSeq X Ten
Mutation(HGVS format) NC_000009.11:g.2167798 A>T (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 141213431

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0
EIGEN score -0.1182
CADD Raw score (version 1.3) -0.300246 (Deleterious)
FATHMM raw prediction score 0.18503 (Tolerated)
Deleterious probability by DeFine 0.5295 (Deleterious)
Entrez Gene ID 6595 (NCBI Gene)
Official Gene Symbol SMARCA2 (GeneCards)
Number of variants in SMARCA2 in this database 8 (view all the variants)
Full name SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2
Band 9p24.3
Other IDs Vega: OTTHUMG00000019445
OMIM: 600014
HGNC: HGNC:11098
Ensembl: ENSG00000080503
Other names BRM, SNF2, SWI2, hBRM, NCBRS, Sth1p, BAF190, SNF2L2, SNF2LA, hSNF2a
Summary The protein encoded by this gene is a member of the SWI/SNF family of proteins and is highly similar to the brahma protein of Drosophila. Members of this family have helicase and ATPase activities and are thought to regulate transcription of certain genes by altering the chromatin structure around those genes. The encoded protein is part of the large ATP-dependent chromatin remodeling complex SNF/SWI, which is required for transcriptional activation of genes normally repressed by chromatin. Alternatively spliced transcript variants encoding different isoforms have been found for this gene, which contains a trinucleotide repeat (CAG) length polymorphism. [provided by RefSeq, Jan 2014]

Individual #1

Individual ID 29217584.10 (view all the variants in this individual)
Pubmed ID 29217584
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID

Publication #1: 29217584

Pubmed ID 29217584
Title Aging and neurodegeneration are associated with increased mutations in single human neurons.
Journal Science
Publication date 2018.02
Disease Cockayne syndrome Xeroderma Pigmentosum
Number of cases Male cases: 3; Female cases: 6; cases of unknown sex: 15;