LOVD - Variant listings for ATP7A

About this overview [Show]

Patient data (#0000388)
Disease Menkes disease
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival -
Phenotype/Severity Atypical
Treatment -
Occurrence de novo
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 05_06
DNA change c.1337-?_1707+?dup   (View in UCSC Genome Browser, Ensembl)
DNA published -
RNA change wild type; r.1337_1707dup
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00317
Reference Mogensen 2011
Variant remarks r.1337_1707dup (frame shift); r.= (wild-type)
Technique MLPA, 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 05_06 c.1337-?_1707+?dup - wild type; r.1337_1707dup - - - ATP7A_00317 Mogensen 2011 r.1337_1707dup (frame shift); r.= (wild-type) MLPA, SEQ DNA, RNA