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.
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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.560C>G r.(?) p.(Thr187Arg) - pathogenic (dominant) g.48895942G>C g.49038417G>C - - TFE3_000010 0.65 mosaic PubMed: Villegas 2019, PubMed: Lehalle 2020 - - Somatic - - - 0 - Johan den Dunnen
+?/. - c.560C>G r.(?) p.(Thr187Arg) - likely pathogenic g.48895942G>C - TFE3(NM_006521.5):c.560C>G (p.T187R) - TFE3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
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