All variants in the SMARCA2 gene

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

1 entry on 1 page. Showing entry 1.
Legend   How to query  

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     
+/? 19 c.2838A>T r.(?) p.(Leu946Phe) - pathogenic g.2088568A>T g.2088568A>T - - SMARCA2_000026 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - SIB - Livia Famiglietti
Legend   How to query