Variant #0000316482 (NC_000023.10:g.48887958C>G, TFE3(NM_006521.4):c.1439G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48887958C>G
DNA change (hg38) g.49030447C>G
Published as TFE3(NM_006521.5):c.1439G>C (p.G480A)
ISCN -
DB-ID TFE3_000006
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 0.00082 View details
Owner VKGL-NL_Rotterdam
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Rotterdam
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 -/. - c.1439G>C r.(?) p.(Gly480Ala)