LOVD - Variant listings for ATP7A

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Patient data (#0000377)
Disease MRX
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival -
Phenotype/Severity -
Treatment -
Occurrence -
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Probably no pathogenicity
Concluded pathogenicity Unknown
Exon 3
DNA change c.327G>A   (View in UCSC Genome Browser, Ensembl)
DNA published K109K
RNA change r.(?)
Protein p.=
Re-site -
Frequency -
DB-ID ATP7A_00281
Reference Tarpey 2009
Variant remarks recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk)
Technique SEQ
Template DNA

1 entry in ATP7A

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
DNA published Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
Reference Descending
Ascending
Variant remarks Descending
Ascending
Technique Descending
Ascending
Template Descending
Ascending
-?/? Unknown 3 c.327G>A K109K r.(?) p.= - - ATP7A_00281 Tarpey 2009 recurrent, found 2 times; for privacy reasons only summary data are given - for details contact Lucy Raymond (flr24 @ cam.ac.uk) SEQ DNA