Variants - Diamond-Blackfan Anemia - Leiden Open Variation Database

Diamond-Blackfan Anemia

ribosomal protein S17 (RPS17)

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 (#0000234)
Patient ID	pat1rps1700003
Gender	m
Malformations	None
Growth Retardation	yes
Steroid Response	na
Complications	-
Variant Origin	de novo, in patient
Reference	Song et al (2009) Pediatric Blood Cancer [Epub ahead of print]
Template	DNA
Technique	SEQ
Remarks	-
# Reported	1

Variant data
Allele	Unknown
Reported pathogenicity	Pathogenic
Concluded pathogenicity	Pathogenic
Exon	01
DNA change	c.1A>G (View in UCSC Genome Browser, Ensembl)
RNA change	-
Protein	p.Met1Val
Re-site	NlaIII(-)
Frequency	-
DB-ID	RPS17_00003
Location	-
Remarks	elimination of the natural start site for protein biosynthesis
Molecula Mechanisms	transition

1 entry in RPS17

Path.

Allele

Exon

DNA change

RNA change

Protein

Re-site

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

+/+

Unknown

01

-

p.Met1Val

NlaIII(-)

-

RPS17_00003

-

elimination of the natural start site for protein biosynthesis

transition