LOVD - Variant listings for RPS24

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Patient data (#0000230)
Patient ID pat1rps2400005
Gender na
Malformations None
Growth Retardation na
Steroid Response na
Complications -
Variant Origin de novo
Reference Quarello et al (2009) Haematologica. 2009 Sep 22. [Epub ahead of print]
Template DNA
Technique SEQ
Remarks -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 02
DNA change c.64_66delCAA   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Gln22del
Frequency -
DB-ID RPS24_00005
Location -
Remarks Deletion
Molecula Mechanisms slippage
Functional_Classific -
mRNA_Expression -
Protein_Expression -
Protein_Localization -
rRNA_Metabolism -
Protein_Synthesis -
Cell_Growth -
Functional_Remarks -
Functional_Reference -

1 entry in RPS24

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 02 c.64_66delCAA - p.Gln22del - RPS24_00005 - Deletion slippage - - - - - - - - -