LOVD - Variant listings for ACOT9

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Patient data (#0001112)
Consang. -
Ethnic origin ?
Geographic origin ?
Age_onset -
Disease MRX
Inheritance unknown
MR -
Phenotype additional -
Reference Raymond:Cambridge
Remarks -
# Reported 5
Submitter Lucy Raymond

Variant data
Allele Parent #1
Reported pathogenicity Unknown
Concluded pathogenicity Unknown
DB-ID ACOT9_00005
DNA change c.907G>C   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
Template DNA
do not use SEQ
Exon -
Frequency -
Genetic origin -
Protein p.E303Q
RNA change r.(?)
Reference Tarpey 2009
Variant remarks recurrent, found 5 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Re-site -

1 entry in ACOT9

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 ACOT9_00005 c.907G>C - DNA SEQ - - - p.E303Q r.(?) Tarpey 2009 recurrent, found 5 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) -