All variants in the TFE3 gene

Information The variants shown are described using the NM_006521.4 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.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Lehalle 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 0.88 mosaic PubMed: Lehalle 2020 - - Somatic - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic (dominant) g.48896816C>T g.49039291C>T - - TFE3_000033 - PubMed: Diaz 2020 - - De novo - - - 0 - Johan den Dunnen
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.350G>A r.(?) p.(Arg117Gln) - pathogenic g.48896816C>T - TFE3(NM_006521.5):c.350G>A (p.R117Q), TFE3(NM_006521.6):c.350G>A (p.R117Q) - TFE3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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