Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein S26 (RPS26)

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

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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 (#0000338)
Patient ID	pat1rps2600001
Gender	m
Malformations	Cleft lip and palate
Growth Retardation	na
Steroid Response	yes
Complications	-
Variant Origin	de novo, in patient
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	01
DNA change	c.1A>T (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Met1Leu
Frequency	-
DB-ID	RPS26_00001
Location	-
Remarks	Missense mutation
Molecula Mechanisms	transversion

1 entry in RPS26

Path.

Allele

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

01

-

p.Met1Leu

-

RPS26_00001

-

Missense mutation

transversion