LOVD - Variant listings for ATP7A

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Patient data (#0000292)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival 19mo
Phenotype/Severity Classical
Treatment -
Occurrence maternal
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon -
DNA change c.?
DNA published 46,XY,ins(X)(p11.4q13.3q21.2)mat
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00256
Reference Tümer 1992a
Variant remarks -
Technique Karyotyping, FISH
Template Chromosome

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 - c.? 46,XY,ins(X)(p11.4q13.3q21.2)mat - - - - ATP7A_00256 Tümer 1992a - Karyotyping, FISH Chromosome