Variant #0000334040 (NC_000023.10:g.48900727C>G, TFE3(NM_006521.4):c.26G>C)

Chromosome X
Allele Unknown
Affects function (as reported) Probably does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification likely benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.48900727C>G
DNA change (hg38) g.49043201C>G
Published as TFE3(NM_006521.5):c.26G>C (p.R9P, p.(Arg9Pro))
ISCN -
DB-ID TFE3_000014 See all 2 reported entries
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) 0.00147 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
TFE3 NM_006521.4 -?/. - c.26G>C r.(?) p.(Arg9Pro)