Variant #0000704422 (NC_000023.10:g.48896816C>T, TFE3(NM_006521.4):c.350G>A)

Individual ID 00320349
Chromosome X
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Not classified
Classification method -
Clinical classification pathogenic (dominant)
DNA change (genomic) (Relative to hg19 / GRCh37) g.48896816C>T
DNA change (hg38) g.49039291C>T
Published as -
ISCN -
DB-ID TFE3_000033 See all 5 reported entries
Variant remarks -
Reference PubMed: Diaz 2020
ClinVar ID -
dbSNP ID -
Origin De novo
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) Variant not found in online data sets
Owner Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 +/. - c.350G>A r.(?) p.(Arg117Gln)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000321535 DNA SEQ;SEQ-NG - trio WES TFE3 3 Johan den Dunnen