Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein L5 (RPL5)

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 (#0000237)
Patient ID	pat1rpl500002
Gender	f
Malformations	Atrial septal defect, flat thenar eminence, short stature
Growth Retardation	na
Steroid Response	no
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	06
DNA change	c.[678C>A; 680T>G] (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.[Tyr226X; Ile227Arg]
Frequency	-
DB-ID	RPL5_00002
Location	-
Remarks	Nonsense/Missense mutation
Molecula Mechanisms	transversion

1 entry in RPL5

Path.

Allele

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

06

c.[678C>A; 680T>G]

-

p.[Tyr226X; Ile227Arg]

-

RPL5_00002

-

Nonsense/Missense mutation

transversion