LOVD - Variant listings for ATP7A

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Patient data (#0000224)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 2
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival alive 8.6yr; brother died 7yr
Phenotype/Severity Brother Classical LS
Treatment Cu treatment from day14, severe delays; brother not treated
Occurrence Familial
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 1
DNA change c.-160-?_-22+?del   (View in UCSC Genome Browser, Ensembl)
DNA published del ex1
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00206
Reference Kaler 2008, Kaler 2010
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 1 c.-160-?_-22+?del del ex1 - - - - ATP7A_00206 Kaler 2008, Kaler 2010 - - -