LOVD - Variant listings for TFE3

About this overview [Show]

Patient data (#0002220)
Consang. -
Ethnic origin ?
Geographic origin ?
Age_onset -
Disease MRX
Inheritance unknown
MR -
Phenotype additional -
Reference Raymond:Cambridge
Remarks -
# Reported 1
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID TFE3_00002
DNA change c.416C>T   (View in UCSC Genome Browser, Ensembl)
Var_pub_as p.A139V
Template DNA
do not use SEQ
Exon -
Frequency -
Genetic origin -
Protein p.Ala139Val
RNA change r.(?)
Reference Tarpey 2009
Variant remarks found once, nonrecurrent change
Re-site -

1 entry in TFE3

Path.
Allele Descending
Ascending
DB-ID Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
Template Descending
Ascending
do not use Descending
Ascending
Exon Descending
Ascending
Frequency Descending
Ascending
Genetic origin Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
Re-site Descending
Ascending
?/? Parent #1 TFE3_00002 c.416C>T p.A139V DNA SEQ - - - p.Ala139Val r.(?) Tarpey 2009 found once, nonrecurrent change -