All variants in the SHROOM4 gene

Information The variants shown are described using the NM_020717.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend   How to query  

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.266G>A r.(?) p.(Arg89Lys) - benign g.50438789C>T g.50695789C>T SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.266G>A r.(?) p.(Arg89Lys) - likely benign g.50438789C>T g.50695789C>T SHROOM4(NM_020717.3):c.266G>A (p.R89K, p.(Arg89Lys)) - SHROOM4_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.266G>A r.(?) p.(Arg89Lys) - VUS g.50438789C>T g.50695789C>T - - SHROOM4_000065 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
Legend   How to query