LOVD - Variant listings for ATP7A

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Patient data (#0000250)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival 1yr 6mo
Phenotype/Severity Classical
Treatment -
Occurrence Familial
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 6
DNA change c.1544-?_1707+?del   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00224
Reference Tümer 2003, Moller 2012
Variant remarks frame shift
Technique Southern, PCR, PCRm
Template DNA

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 6 c.1544-?_1707+?del - - - - - ATP7A_00224 Tümer 2003, Moller 2012 frame shift Southern, PCR, PCRm DNA