All variants in the SMARCA2 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.702_707dup r.(?) p.(Gln237_Gln238dup) - likely benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) - benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) - benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.702_707dup r.(?) p.(Gln237_Gln238dup) - likely benign g.2039812_2039817dup g.2039812_2039817dup SMARCA2(NM_003070.3):c.669_670insCAGCAG (p.(Gln222_Gln223dup)), SMARCA2(NM_003070.4):c.702_707dupGCAGCA (p.Q237_Q238dup) - SMARCA2_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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