All variants in the SMARCA2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/? 18 c.2554G>A r.(?) p.(Glu852Lys) - pathogenic g.2086856G>A g.2086856G>A - - SMARCA2_000020 - PubMed: Van Houdt et al 2012 - - Unknown - - - 0 - SIB - Livia Famiglietti
+/. 18 c.2554G>A r.(?) p.(Glu852Lys) - pathogenic g.2086856G>A g.2086856G>A - - SMARCA2_000020 - PubMed: Wieczorek 2013 - - De novo - - - 0 - Johan den Dunnen
?/. 18 c.2554G>A r.(?) p.(Glu852Lys) - VUS g.2086856G>A g.2086856G>A p.(Glu852Lys), not specified - SMARCA2_000020 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. 18 c.2554G>A r.(?) p.(Glu852Lys) - VUS g.2086856G>A g.2086856G>A p.(Glu852Lys), not specified - SMARCA2_000020 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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