All variants in the TFE3 gene

Information The variants shown are described using the NM_006521.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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.1323A>G r.(?) p.(Val441=) - benign g.48888074T>C g.49030563T>C TFE3(NM_006521.6):c.1323A>G (p.V441=) - TFE3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1323A>G r.(=) p.(=) - VUS g.48888074T>C g.49030563T>C V441V - TFE3_000008 recurrent, found 64 times; variant and/or predicted effect could not be not confirmed by curators PubMed: Tarpey 2009 - - Germline - 64/208 cases - 0 - Lucy Raymond
Legend   How to query