LOVD - Variant listings for ATP7A

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Patient data (#0000006)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival 10yr 3mo
Phenotype/Severity -
Treatment Cu treatment
Occurrence Single case
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 4
DNA change c.890delG   (View in UCSC Genome Browser, Ensembl)
DNA published Del G in codon 297
RNA change r.890delG
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00009
Reference Tümer 1996, George and Casey 2001
Variant remarks Normal size (frame shift)
Technique SEQ
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 4 c.890delG Del G in codon 297 r.890delG - - - ATP7A_00009 Tümer 1996, George and Casey 2001 Normal size (frame shift) SEQ DNA, RNA