LOVD - Variant listings for RPS10

About this overview [Show]

Patient data (#0000352)
Patient ID pat1rps1000002
Gender f
Malformations None
Growth Retardation na
Steroid Response yes
Complications -
Variant Origin sporadic
Reference Doherty et al (2010) Am J Hum Genet. 2010 Jan 27 [Epub ahead of print]
Template DNA
Technique SEQ
Remarks -
# Reported 1

Variant data
Allele Unknown
Reported pathogenicity Pathogenic
Concluded pathogenicity Pathogenic
Exon 03
DNA change c.260_261insC   (View in UCSC Genome Browser, Ensembl)
RNA change -
Protein p.Glu88GlyfsX10
Frequency -
DB-ID RPS10_00002
Location -
Remarks Insertion
Molecula Mechanisms slippage

1 entry in RPS10

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
+/+ Unknown 03 c.260_261insC - p.Glu88GlyfsX10 - RPS10_00002 - Insertion slippage