LOVD - Variant listings for ATP7A

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Patient data (#0000352)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival alive 9yr
Phenotype/Severity CS
Treatment IV+oral Cu
Occurrence -
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 4
DNA change c.1189_1192delGGTG   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change -
Protein p.(Gly397Serfs*8)
Re-site -
Frequency -
DB-ID ATP7A_00012
Reference Tümer 2011
Variant remarks -
Technique SEQ
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 4 c.1189_1192delGGTG - - p.(Gly397Serfs*8) - - ATP7A_00012 Tümer 2011 - SEQ DNA