Variant #0000393401 (NC_000023.10:g.48888074T>C, TFE3(NM_006521.4):c.1323A>G)

Individual ID 00172659
Chromosome X
Allele Parent #1
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.48888074T>C
DNA change (hg38) g.49030563T>C
Published as V441V
ISCN -
DB-ID TFE3_000008 See all 2 reported entries
Variant remarks recurrent, found 64 times; variant and/or predicted effect could not be not confirmed by curators
Reference PubMed: Tarpey 2009
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation -
Frequency 64/208 cases
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.39018 View details
Owner Lucy Raymond
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 ?/. - c.1323A>G r.(=) p.(=)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000173542 DNA SEQ - - CENPI 1 Lucy Raymond