LOVD - Variant listings for RS1

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Patient data (#0003621)
Disease retinoschisis, X-linked, type-1 (RS-1)
Phenotype additional -
Remarks -
Reference JdD
Inheritance familial
Consanguinity -
Families/Patients -
# Reported 1
Geographic origin Denmark
Ethnic origin -
Gender ?
Age_onset -
Phenotype_onset -
Submitter Johan den Dunnen

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon -
DNA change c.1-?_52+?del   (View in UCSC Genome Browser, Ensembl)
Var_pub_as -
RNA change r.0?
Protein p.0?
DB-ID RS1_00010
Variant remarks -
Origin germline (inherited)
Reference RS-consortium 1998, group 4
Detection/Template DNA
Detection/Technique Southern
Frequency -
RE-site -
Protein_data -

2 entries in RS1

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
Var_pub_as Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
DB-ID Descending
Ascending
Variant remarks Descending
Ascending
Origin Descending
Ascending
Reference Descending
Ascending
Detection/Template Descending
Ascending
Detection/Technique Descending
Ascending
Frequency Descending
Ascending
RE-site Descending
Ascending
Protein_data Descending
Ascending
+/? Maternal (inferred) - c.1-?_52+?del - r.0? p.0? RS1_00010 - germline (inherited) RS-consortium 1998, group 4 DNA Southern - - -
+/? Paternal (inferred) 1_6 c.0 - r.0 p.0 RS1_00000 no paternal X-chromosome germline (inherited) - DNA ? - - -