All variants in the SMARCA2 gene

Information The variants shown are described using the NM_003070.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+/? 25 c.3473A>T r.(?) p.(Asp1158Val) - pathogenic g.2115838A>T g.2115838A>T - - SMARCA2_000004 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - SIB - Livia Famiglietti
?/. 25 c.3473A>T r.(?) p.(Asp1158Val) - VUS g.2115838A>T g.2115838A>T p.(Asp1158Val), not specified - SMARCA2_000004 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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