LOVD - Variant listings for ATP7A

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Patient data (#0000217)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival -
Phenotype/Severity Classical
Treatment -
Occurrence familial
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 03_5
DNA change c.121-?_1543+?dup   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change r.121_1543dup
Protein p.(Gly515Glyfs*13)
Re-site -
Frequency -
DB-ID ATP7A_00202
Reference Moizard 2010
Variant remarks cDNA fragment joining exons 2 to 5
Technique PCR
Template DNA, RNA

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 03_5 c.121-?_1543+?dup - r.121_1543dup p.(Gly515Glyfs*13) - - ATP7A_00202 Moizard 2010 cDNA fragment joining exons 2 to 5 PCR DNA, RNA