All variants in the SHROOM4 gene

Information The variants shown are described using the NM_020717.3 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     
+?/. - c.405-1G>A r.spl? p.? ACMG likely pathogenic g.50378669C>T - - - SHROOM4_000116 ACMG: PVS1, PM2_SUP; variant confirmed de novo in trio-exome, variant allele frequency in male fetus 39%, mosaic constellation in fetus - - - De novo ? - - - - Andreas Laner
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