LOVD - Variant listings for GSPT2

About this overview [Show]

Patient data (#0000408)
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 GSPT2_00002
DNA change c.793A>G
Var_pub_as -
Template DNA
do not use SEQ
Exon -
Frequency -
Genetic origin -
Protein p.K265E
RNA change r.(?)
Reference Tarpey 2009
Variant remarks found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Re-site -

1 entry in GSPT2

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 GSPT2_00002 c.793A>G - DNA SEQ - - - p.K265E r.(?) Tarpey 2009 found once, nonrecurrent change; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) -