LOVD - Variant listings for RPS19

About this overview [Show]

Patient data (#0000163)
Patient ID pat1rps1900078
Gender f
Malformations Left kidney aplasia/hypoplasia
Growth Retardation yes
Steroid Response na
Complications -
Variant Origin de novo, in patient
Reference Gustavsson et al (1997) J Med Genet 34, 779-82
Template DNA
Technique Kar, FISH
Remarks -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 00
DNA change t(X;19) (p21;q13)
RNA change -
Protein p.0
Frequency -
DB-ID RPS19_00078
Location -
Remarks Translocation; haploinsufficiency
Molecula Mechanisms -
Functional_Classific Reduces RPS19 mRNA levels
mRNA_Expression Normal in peripheral blood MNC, but reduced levels compared to controls in BM CD34+. No abnormal size transcript [1].
Protein_Expression -
Protein_Localization -
rRNA_Metabolism 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio: 3,1) (BM CD34+ cells) [2].
Protein_Synthesis -
Cell_Growth -
Functional_Remarks -
Functional_Reference [1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Flygare et al (2007) Blood 109, 980-6

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 00 t(X;19) (p21;q13) - p.0 - RPS19_00078 - Translocation; haploinsufficiency - Reduces RPS19 mRNA levels Normal in peripheral blood MNC, but reduced levels compared to controls in BM CD34+. No abnormal size transcript [1]. - - 18S rRNA processing defect, as indicated by increase in 21S pre-rRNA (21S/18SE ratio: 3,1) (BM CD34+ cells) [2]. - - - [1] Hamaguchi et al (2002) Blood 100, 2724-31; [2] Flygare et al (2007) Blood 109, 980-6