All variants in the SHROOM4 gene

Information The variants shown are described using the NM_020717.3 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.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.4101G>T r.(?) p.(Leu1367Phe) - VUS g.50341377C>A g.50598377C>A - - SHROOM4_000030 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A SHROOM4(NM_020717.3):c.4101G>T (p.L1367F, p.(Leu1367Phe)) - SHROOM4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A - - SHROOM4_000030 12 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28362302 Germline - 12/2795 individuals - 0 - Mohammed Faruq
-/. - c.4101G>T r.(?) p.(Leu1367Phe) - benign g.50341377C>A g.50598377C>A - - SHROOM4_000030 6 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28362302 Germline - 6/2795 individuals - 0 - Mohammed Faruq
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