LOVD - Variant listings for ATP7A

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Patient data (#0000001)
Disease OHS
Reference Denmark:Glostrup
Remarks -
# Reported 1
Gender -
Ethnic origin -
Geographic origin -
Phenotype/Dod or survival -
Phenotype/Severity OHS
Treatment -
Occurrence -
Submitter Zeynep Tumer

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon -
DNA change c.-160u-646?_-160u-548?del
DNA published -
RNA change -
Protein -
Re-site -
Frequency -
DB-ID ATP7A_00001
Reference Levinson 1996
Variant remarks Deletion of one of the three 98-bp tandem repeats in the promoter region; ormal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing.
Technique SEQ
Template 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 - c.-160u-646?_-160u-548?del - - - - - ATP7A_00001 Levinson 1996 Deletion of one of the three 98-bp tandem repeats in the promoter region; ormal levels with qRT-PCR. No effect on the site of transcription initiation, termination, splicing. SEQ RNA