Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein L11 (RPL11)

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 (#0000305)
Patient ID	pat1rpl1100007
Gender	f
Malformations	Not available
Growth Retardation	na
Steroid Response	na
Complications	-
Variant Origin	de novo, in patient
Reference	Quarello et al (2009) Haematologica. 2009 Sep 22. [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.291_302del (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Asn98_Asp101del
Frequency	-
DB-ID	RPL11_00007
Location	-
Remarks	Deletion
Molecula Mechanisms	-

1 entry in RPL11

Path.

Allele

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

04

-

p.Asn98_Asp101del

-

RPL11_00007

-

Deletion

-