LOVD - Variant listings for TFE3

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

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

1 entry in TFE3

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