LOVD - Variant listings for ATP7A

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Patient data (#0000047)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival Alive 2yr 7mo
Phenotype/Severity -
Treatment Cu treatment from day 7, moderate delay
Occurrence -
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 3
DNA change c.589C>T   (View in UCSC Genome Browser, Ensembl)
DNA published Q197X
RNA change -
Protein p.(Gln197*)
Re-site -
Frequency -
DB-ID ATP7A_00057
Reference Kaler 2010
Variant remarks Mutation not described at sequence level in the manuscript
Technique SEQ
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 3 c.589C>T Q197X - p.(Gln197*) - - ATP7A_00057 Kaler 2010 Mutation not described at sequence level in the manuscript SEQ -