Full database search - Diamond-Blackfan Anemia - Leiden Open Variation Database

About this overview [Show]

The variants below are all in the RPL35A database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the DNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RPL35A, are reported as the gene symbol with the number of reported variants between parenthesis.
Selecting and clicking a specific line will open a detailed view showing all details per patient.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the RPL35A full legend here.

1 public entry
entries per page

Path.

Exon

DNA change

RNA change

Protein

Frequency

DB-ID

Location

Remarks

Molecula Mechanisms

Patient ID

Gender

Malformations

Growth Retardation

Steroid Response

Complications

Variant Origin

Reference

Template

Technique

Remarks

# Reported


+/+	04	c.304C>T	-	p.Arg102X	-	RPL35_00004	-	Nonsense mutation; 9 aa C-terminal truncation	CpG	pat1rpl35a00004	m	Bilateral duplicated ureters, bilateral duplicated 11th ribs	na	no	-	sporadic?(parents not tested)	Farrar et al (2008) Blood 112(5), 1582-1592	DNA	SEQ	-	1

1

Legend: [ RPL35A full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. Exon: Exon numbering. DNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. Frequency: Frequency of polymorphism. RPL35A DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Location: Variant location at DNA level. Remarks: Description of the variant Molecula Mechanisms: Molecular mechanisms Patient ID: Internal reference to the patient. Gender: Patient gender Malformations: Malformations associated to the allelic variant. Growth Retardation: Growth retardation. Steroid Response: Response to steroid treatment. Complications: Medical complications, malignancies Variant Origin: Variant origin Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. Template: Variant detected in DNA, RNA and/or Protein. Technique: Technique used to detect the variation. # Reported: Number of times this case has been reported

Diamond-Blackfan Anemia

ribosomal protein L35a (RPL35A)