Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein S26 (RPS26)

LOVD v.2.0 Build 38 [ Current LOVD status ]
Register as submitter | Log in

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 (#0000347)
Patient ID	pat1rps2600005
Gender	f
Malformations	None
Growth Retardation	na
Steroid Response	no
Complications	-
Variant Origin	sporadic?(patients non tested)
Reference	Doherty et al (2010) Am J Hum Genet. 2010 Feb 12;86(2) : 222-228
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	02
DNA change	c.31 32insG
RNA change	-
Protein	p.Ala11GlyfsX15
Frequency	-
DB-ID	RPS26_00005
Location	-
Remarks	Insertion
Molecula Mechanisms	slippage

1 entry in RPS26

Path.

Allele

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

02

-

p.Ala11GlyfsX15

-

RPS26_00005

-

Insertion

slippage