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     
+/. 18 c.2639C>T r.(?) p.(Thr880Ile) - pathogenic g.2086941C>T g.2086941C>T - - SMARCA2_000059 - PubMed: Wieczorek 2013 - - De novo - - - 0 - Johan den Dunnen
?/. 18 c.2639C>T r.(?) p.(Thr880Ile) - VUS g.2086941C>T g.2086941C>T p.(Thr880Ile), not specified - SMARCA2_000059 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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