LOVD - Variant listings for RPS19

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Patient data (#0000202)
Patient ID pat1rps1900113
Gender m
Malformations None
Growth Retardation no
Steroid Response na
Complications -
Variant Origin de novo, in patient
Reference Lydie Da Costa, Hematology Laboratory, Robert Debré Hospital Paris
Template DNA
Technique PCR
Remarks -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Unknown
Exon 06
DNA change c.412-13_417del   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.0?
Frequency -
DB-ID RPS19_00113
Location Intron 5/Exon 6
Remarks Deletion
Molecula Mechanisms -
Functional_Classific -
mRNA_Expression -
Protein_Expression -
Protein_Localization -
rRNA_Metabolism -
Protein_Synthesis -
Cell_Growth -
Functional_Remarks -
Functional_Reference -

1 entry in RPS19

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
RNA change Descending
Ascending
Protein Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
Location Descending
Ascending
Remarks Descending
Ascending
Molecula Mechanisms Descending
Ascending
Functional_Classific Descending
Ascending
mRNA_Expression Descending
Ascending
Protein_Expression Descending
Ascending
Protein_Localization Descending
Ascending
rRNA_Metabolism Descending
Ascending
Protein_Synthesis Descending
Ascending
Cell_Growth Descending
Ascending
Functional_Remarks Descending
Ascending
Functional_Reference Descending
Ascending
+/? Unknown 06 c.412-13_417del - p.0? - RPS19_00113 Intron 5/Exon 6 Deletion - - - - - - - - - -