LOVD - Variant listings for ATP7A

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Patient data (#0000318)
Disease -
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 No known pathogenicity
Concluded pathogenicity Probably no pathogenicity
Exon 5
DNA change c.1387C>T   (View in UCSC Genome Browser, Ensembl)
DNA published 1535C>T (L464L)
RNA change -
Protein p.(Leu463Leu)
Re-site -
Frequency -
DB-ID ATP7A_00284
Reference Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005
Variant remarks -
Technique -
Template -

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 5 c.1387C>T 1535C>T (L464L) - p.(Leu463Leu) - - ATP7A_00284 Ogawa 2000, Gu 2001, Hahn 2001, Watanabe 2005 - - -