Search unique variants - rb1-lsdb - Leiden Open Variation Database

Please note that this overview may not be complete, as variants with unknown effect to the phenotype are left out.

About this overview [Show]

The variants below are all in the RB1 database, matching your query. In this view only variant fields are shown. Variants are listed only once, a number is present in the cDNA change field when a variant has been reported more than once (in such cases fields other than the cDNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
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.

20 entries
entries per page

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in


g.1772C>T	c.-288C>T	Substitution	00_up	regulatory	-	-	unknown	RB1_01855	unknown
g.2090_2092dupGCC	c.31_33dupGCC	Duplication	01_ex	-	p.Ala11dup	Ala11dup	unknown	RB1_01447	-
g.2104_2112del	c.45_53del (Reported 6 times)	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-
g.2111_2139dup	c.52_80dup	Duplication	01_ex	-	-	-	unknown	RB1_01775	germline
g.2127C>T	c.68C>T	Substitution	01_ex	-	p.Pro23Leu	[Pro23Leu]	unknown	RB1_01456	-
g.2137__2139del	c.78_80del	Deletion	01_ex	-	p.Pro29del	Pro29del	unknown	RB1_01448	-
g.5459C>T	c.173C>T	Substitution	02_ex	-	p.Thr58Ile	-	unknown	RB1_01566	germline
g.5461G>C	c.175G>C	Substitution	02_ex	-	p.Ala59Pro	-	unknown	RB1_01567	somatic
g.5625T>C	c.264+75T>C (Reported 4 times)	substitution	02_in	-	variant	-	variant	RB1_01005	-
g.61797G>A	c.929G>A	substitution	09_ex	-	p.Gly310Glu	-	missense	RB1_01029	-
g.65405A>C	c.1091A>C	Substitution	11_ex	-	p.(Glu364Ala)	-	missense	RB1_02056	germline
g.82599	C>T	Substitution	17	c.1596	p.Ile532Ile	-	silent	RB1_02109	germline
g.15009A>G	c.1707A>G	Substitution	18_ex	-	p.Leu569Leu	[Leu569Leu]	unknown	RB1_01454	-
-	c.1815-5T>C	Substitution	18_in	-	-	-	variant	RB1_01874	unknown
g.153244T>C	c.1851T>C	Substitution	19_ex	-	p.Gly617Gly	-	silent	RB1_01423	-
-	c.1876G>A	Substitution	19_ex	-	p.Ala626Thr	-	missense	RB1_01873	unknown
g.156698C>T	c.1966C>T	substitution	20_ex	-	p.Arg656Trp	-	missense	RB1_00403	unknown
g.156812	c.2080_2081insCCTGCAGAACACCCTGCAGAA	Insertion	20	-	P.693insPAEHPAE	-	in-frame	RB1_02113	germline
g.162333C>T	c.2455C>T	Substitution	23_ex	-	p.Leu819Leu	p.Leu819Leu	silent	RB1_01451	-
g.162341A>G	c.2463A>G	Substitution	23_ex	-	p.Thr821Thr	Thr821Thr	silent	RB1_01431	-

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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.
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)

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rb1-lsdb

retinoblastoma 1 (RB1)