All variants in the SMARCA2 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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.3314G>A r.(?) p.(Arg1105His) - VUS g.2110275G>A g.2110275G>A - - SMARCA2_000047 - - - - De novo - - - - - Gijs Santen
+/. - c.3314G>A r.(?) p.(Arg1105His) - pathogenic g.2110275G>A g.2110275G>A - - SMARCA2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. 24 c.3314G>A r.(?) p.(Arg1105His) - VUS g.2110275G>A g.2110275G>A - - SMARCA2_000047 - PubMed: Santen GW 2013 - - De novo - - - 0 - Julia Lopez
?/. 24 c.3314G>A r.(?) p.(Arg1105His) - VUS g.2110275G>A g.2110275G>A p.(Arg1105His), not specified - SMARCA2_000047 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. 24 c.3314G>A r.(?) p.(Arg1105His) - VUS g.2110275G>A g.2110275G>A p.(Arg1105His), not specified - SMARCA2_000047 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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