Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein S10 (RPS10)

LOVD v.2.0 Build 38 [ Current LOVD status ]
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Curators: I. Boria and U. Ramenghi

About this overview [Show]
This detailed view shows all details of the selected patient, including all variants reported in this patient. At the bottom of the page, all variants reported in this patient are listed, with the one you are looking at in bold. The link to the UCSC Genome Browser will show the browser zoomed in to the location of the selected variant.

Patient data (#0000355)
Patient ID	pat3rps1000003
Gender	f
Malformations	Webbed neck
Growth Retardation	na
Steroid Response	no
Complications	-
Variant Origin	de novo, in patient
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	04
DNA change	c.337C>T (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Arg113X
Frequency	-
DB-ID	RPS10_00003
Location	-
Remarks	Nonsense mutation
Molecula Mechanisms	CpG

1 entry in RPS10

Path.

Allele

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

04

-

p.Arg113X

-

RPS10_00003

-

Nonsense mutation

CpG