Full database search - rb1-lsdb - Leiden Open Variation Database

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The variants below are all in the RB1 database, matching your query. All fields are shown, including patient and pathogenicity information. A '+' in the cDNA change field indicates that more variants were found in this patient. Variants reported in a gene database other than RB1, 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 RB1 full legend here.

7 public entries
entries per page

Path.

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in

Patient ID

Phenotype

Mut. origin

Tissue

Template

tumor-genotype

family history

Reference

# Reported

Published

Remarks


-/-	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	[Ala16_Ala18del]	in-frame	RB1_00957	-	Fam436	unilateral rb	germline	retinoblastoma	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
-/-	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-	FAM36	unilateral rb	-	blood	DNA	unknown	familial	not reported, BL Gallie - Toronto	1	unpublished	The 9bp exon 1 del did not segregate with disease in family
-/-	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-	Fam910	unilateral rb	germline	blood + tumor	DNA	unknown	isolated	not reported, BL Gallie - Toronto	1	unpublished	Tumor results: Homozy. IVS1+2T>A, Homoz c.45_53del Blood: Het c.45_53del only
?/?	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-	Fam1085	unilateral rb	-	blood	DNA	-	isolated	not reported, BL Gallie - Toronto	1	unpublished	-
-/-	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	-	in-frame	RB1_00957	-	Fam1153	unilateral rb	-	blood	DNA	-	isolated	not reported, BL Gallie - Toronto	1	-	Tumor did not show the c.45-53del but showed homozygous promoter hypermethylation
-/-	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-	Fam1187	unilateral rb	-	blood + tumor	DNA	heterozygous	isolated	not reported, BL Gallie - Toronto	1	unpublished	Tumor showed het IVS19-1G>C and het c.1981C>T and het c.45_53del, blood and tumor showed hetero c.45_53del9
?/-?	g.2104_2112del	c.45_53del	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-	nd	unilateral rb	-	nd	DNA	-	isolated	-	1	-	Remarks. see RBWiki

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Legend: [ RB1 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. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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rb1-lsdb

retinoblastoma 1 (RB1)