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.? r.(?) p.(Glu852Asp) - VUS g.? - p.(Glu852Asp), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? r.(?) p.(Phe903Leu) - VUS g.? - p.(Phe903Leu), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? r.(?) p.(Gly881Arg) - VUS g.? - p.(Gly881Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? r.(?) p.(Leu946Phe) - VUS g.? - p.(Leu946Phe), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
?/. - c.? r.(?) p.(Ser1146Arg) - VUS g.? - p.(Ser1146Arg), not specified - PTCH1_000000 - PubMed: Sousa SB 2014 - - Unknown - - - 0 - Julia Lopez
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