LOVD - Variant listings for ATP7A

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Patient data (#0000008)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival 1yr 5mo
Phenotype/Severity Classical
Treatment -
Occurrence Familial
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 4
DNA change c.1135delA   (View in UCSC Genome Browser, Ensembl)
DNA published 379delA
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00011
Reference Tümer 1997
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.1135delA 379delA - - - - ATP7A_00011 Tümer 1997 - SEQ DNA