All variants in the SMARCA2 gene

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

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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     
?/. 19i_4 c.(2883+1_2884-1)_(3762+1_3763-1)del r.spl? p.? - VUS g.(2088614_2039487)_(2096656_2123718)del - 32kb in-frame deletion ex20-26, not specified - SMARCA2_000096 - PubMed: Sousa SB 2014 - - De novo - - - 0 - Julia Lopez
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