All variants in the SMARCA2 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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     
?/? - c.2554G>C r.(?) p.(Glu852Gln) - VUS g.2086856G>C g.2086856G>C - - SMARCA2_000044 - - - - De novo - - - - - Gijs Santen
?/. 18 c.2554G>C r.(?) p.(Glu852Gln) - VUS g.2086856G>C g.2086856G>C - - SMARCA2_000044 - PubMed: Santen GW 2013 - - De novo - - - 0 - Julia Lopez
?/. 18 c.2554G>C r.(?) p.(Glu852Gln) - VUS g.2086856G>C g.2086856G>C p.(Glu852Gln), not specified - SMARCA2_000044 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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