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.1879C>T r.(?) p.(Pro627Ser) - benign g.50377194G>A g.50634194G>A SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1879C>T r.(?) p.(Pro627Ser) - VUS g.50377194G>A g.50634194G>A - - SHROOM4_000055 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - 0 - Lucy Raymond
-?/. - c.1879C>T r.(?) p.(Pro627Ser) - likely benign g.50377194G>A g.50634194G>A SHROOM4(NM_020717.3):c.1879C>T (p.P627S, p.(Pro627Ser)) - SHROOM4_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
Legend   How to query