LOVD - Variant listings for GLUD2

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Patient data (#0000350)
Disease MRX
Phenotype additional -
Remarks -
Reference Raymond:Cambridge
Geographic origin ?
Ethnic origin ?
Inheritance unknown
Consang. -
Age_exam -
Age_onset -
MR -
# Reported 6
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
Exon -
DNA change c.1492T>G   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.(?)
Protein p.S498A
DB-ID GLUD2_00001
Variant remarks recurrent, found 6 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Frequency -
Reference Tarpey 2009
Template DNA
do not use SEQ
Re-site -
Genetic origin -

1 entry in GLUD2

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.1492T>G - r.(?) p.S498A GLUD2_00001 recurrent, found 6 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - Tarpey 2009 DNA SEQ - -