LOVD - Variant listings for ATP7A

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Patient data (#0000317)
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 05i
DNA change c.1544-272CA(19_24)
DNA published (CA)B in intron 5
RNA change -
Protein p.=
Re-site -
Frequency -
DB-ID ATP7A_00283
Reference Beggy 1995
Variant remarks 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24
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 05i c.1544-272CA(19_24) (CA)B in intron 5 - p.= - - ATP7A_00283 Beggy 1995 6 observed (CA) alleles. n= 19, 20, 21, 22, 23, 24 - -