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

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The variants below are all in the RB1 database. 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.

1753 entries
entries per page

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in


g. 1867-1871	delTGACG	Deletion	-	-	-	-	silent	RB1_02120	germline
g.195insCTGATA	c.-1865_1864insCTGATA	complex	00_up	-	variant	-	variant	RB1_00991	-
g.198del	c.-1862del	deletion	00_up	-	variant	-	variant	RB1_00992	-
g.371C>A	c.-1689C>A	substitution	00_up	-	variant	-	variant	RB1_00993	-
g.605T>C	c.-1455T>C (Reported 2 times)	substitution	00_up	-	variant	-	variant	RB1_00994	-
g.914C>T	c.-1146C>T	substitution	00_up	-	variant	-	variant	RB1_00995	-
g.1023G>A	c.-1037G>A	substitution	00_up	-	variant	-	variant	RB1_00996	-
g.1219C>T	c.-841C>T	substitution	00_up	-	variant	-	variant	RB1_00997	-
g.1282C>T	c.-778C>T	substitution	00_up	-	variant	-	variant	RB1_00998	-
g.1328A>C	c.-732A>C	substitution	00_up	-	variant	-	variant	RB1_00999	-
g.1409A>G	c.-651A>G	substitution	00_up	-	variant	-	variant	RB1_01000	-
g.1565T>C	c.-495T>C (Reported 2 times)	substitution	00_up	-	-	-	-	RB1_01350	-
g.1601C>T	c.-459C>T	substitution	00_up	-	variant	-	variant	RB1_01001	-
g.1718C>T	c.-342C>T	substitution	00_up	-	variant	-	variant	RB1_00953	-
g.1766T>C	c.-294T>C	Substitution	00_up	regulatory	-	-	unknown	RB1_01670	germline
g.1772C>T	c.-288C>T	Substitution	00_up	regulatory	-	-	unknown	RB1_01855	unknown
g.1811_1913del	c.-249_147del	deletion	00_up	-	-	-	-	RB1_01304	-
g.1848G>A	c.-212G>A	substitution	00_up	-	-	-	promoter	RB1_00926	-
g.1854_1871del	c.-206_-189del	deletion	00_up	-	-	-	-	RB1_00927	-
g.1862G>A	c.-198G>A (Reported 5 times)	substitution	00_up	-	SP1-recognition	-	promoter	RB1_00018	-
g.1863G>A	c.-197G>A (Reported 2 times)	substitution	00_up	-	-	-	promoter	RB1_00928	-
g.1863_1864delinsTT	c.-197_-196delinsTT	complex	00_up	-	SP1-recogn	-	promoter	RB1_00470	germline
g.1867T>A	c.-193T>A	substitution	00_up	-	promotor	-	promoter	RB1_01326	-
g.1867T>G	c.-193T>G	substitution	00_up	-	-	-	promoter	RB1_01294	-
g.1871G>T	c.-189G>T (Reported 2 times)	substitution	00_up	-	ATF-recognition	-	promoter	RB1_00017	-
g.1910G>C	c.-150G>C	substitution	00_up	-	SP1-recognition	-	promoter	RB1_00022	-
g.2056C>G	c.-4C>G	substitution	00_up	-	-	-	-	RB1_01370	-
g.2060A>G	c.1A>G (Reported 2 times)	Substitution	01_ex	-	p.Met1Val	Met1Val	unknown	RB1_01443	-
g.2062G>C	c.3G>C	Substitution	01_ex	-	p.Met1Ile	[Met1Ile]	unknown	RB1_01455	-
-	c.14_24del	Deletion	01_ex	-	p.Thr5Asnfs*22	-	frameshift	RB1_01961	germline
g.2077_2095del	c.18_36del	deletion	01_ex	-	-	-	frameshift	RB1_00834	-
g.2078del	c.19C>T	Substitution	01_ex	-	p.Arg7X	-	nonsense	RB1_01672	germline
g.2078del	c.19del	deletion	01_ex	-	-	-	frameshift	RB1_01208	-
g.2078delCGAinsGG	c.19delCGAinsGG	Other/Complex	01_ex	-	-	-	frameshift	RB1_01667	germline
g.2078dup	c.19dup (Reported 6 times)	insertion	01_ex	-	-	-	frameshift	RB1_00449	-
g.2078_2080delinsGG	c.19_21delinsGG (Reported 2 times)	complex	01_ex	-	-	-	frameshift	RB1_00839	-
g.2079dup	c.20dup (Reported 2 times)	insertion	01_ex	-	p.(Thr9Asnfs*22)	-	frameshift	RB1_00340	germline
g.2080insG	c.21insG	Insertion	01_ex	-	-	-	frameshift	RB1_01583	germline
g.2083_2114del	c.24_55del	deletion	01_ex	-	-	-	frameshift	RB1_00858	-
g.2090_2092dupGCC	c.31_33dupGCC	Duplication	01_ex	-	p.Ala11dup	Ala11dup	unknown	RB1_01447	-
g.2091_2122del	c.32_63del (Reported 2 times)	Deletion	01_ex	-	p.(Ala11Glyfs*9)	-	frameshift	RB1_00724	somatic
g.2099dup	c.40dup	Insertion	1_ex	-	p.(Ala14Glyfs*17)	-	frameshift	RB1_02017	germline
g.2101C>T	c.42C>T (Reported 4 times)	substitution	01_ex	-	p.Ala14Ala	Ala14Ala	variant	RB1_00023	-
g.2102_2124del	c.43_65del	deletion	01_ex	-	-	-	-	RB1_01336	-
g.2104ins23	c.45_46ins23	insertion	01_ex	-	-	-	-	RB1_00864	-
g.2104_2112del	c.45_53del (Reported 7 times)	deletion	01_ex	-	p.Ala16_Ala18del	Ala16_Ala18del	in-frame	RB1_00957	-
g.2104_2129del	c.45_70del	deletion	01_ex	-	p.Glu19Profs*3	-	frameshift	RB1_00318	germline
g.2104_2032del	c.45_73del	Deletion	1_ex	-	p.(Ala18Profs*3)	-	unknown	RB1_02019	germline
g.2104_2135del	c.45_76del	Deletion	01_ex	-	p.Ala17Profs*3	-	frameshift	RB1_01409	unknown
g.2104_2138dup	c.45_78dup	insertion	01_ex	-	p.Pro27Cysfs*15	-	frameshift	RB1_01324	unknown
g.2104_2139del	c.45_79del (Reported 2 times)	deletion	01_ex	-	-	-	frameshift	RB1_00422	germline
g.2104_2038dup	c.45_79dup	Insertion	1_ex	-	p.(Pro27Leufs*50)	-	unknown	RB1_02018	germline
-	c.46_65dup	Duplication	01_ex	-	p.Pro25Argfs*47	-	frameshift	RB1_01962	germline
g.2106_2125del	c.47_66del	deletion	01_ex	-	-	-	frameshift	RB1_00563	-
g.2111_2139dup	c.52_80dup	Duplication	01_ex	-	-	-	unknown	RB1_01775	germline
g.2113_2135del	c.54_76del	Deletion	01_ex	-	p.(Glu19Alafs*4)	-	frameshift	RB1_01858	somatic
g.2113_2135dup	c.54_76dup	Insertion	1_ex	-	p.(Pro26Argfs*47)	-	unknown	RB1_02020	germline
g.2113_2138del	c.54_79del	deletion	01_ex	-	p.(Glu19Profs*3)	-	frameshift	RB1_00360	germline
g.2114del	c.55del	deletion	01_ex	-	p.Glu19Asnfs*46	-	frameshift	RB1_01209	unknown
g.2117delC	c.58delC	Deletion	01_ex	-	-	-	frameshift	RB1_01666	germline
g.2118C>T	c.59C>T (Reported 3 times)	substitution	01_ex	-	p.Pro20Leu	Pro20Leu	missense	RB1_00493	-
g.2118_2130del	c.59_71del	Deletion	01_ex	-	-	-	unknown	RB1_01587	germline
g.2120_2133	c.61_74del	Deletion	01_ex	-	p.Pro21Alafs*5	-	frameshift	RB1_01518	somatic
g.2121del	c.62del (Reported 2 times)	deletion	01_ex	-	p.Pro21Argfs*43	-	frameshift	RB1_00646	unknown
-	c.62dup	Duplication	01_ex	-	p.Ala22Glyfs*9	-	frameshift	RB1_01963	germline
g.2121_2122insG	c.64dup	Insertion/Deletion	01_ex	-	p.Ala22Glyfs*9	-	unknown	RB1_01517	unknown
g.2124C>A	c.65C>A	substitution	01_ex	-	p.Ala22Glu	Ala22Glu	unknown	RB1_01377	-
g.2124del	c.65del	deletion	01_ex	-	p.Ala22Aspfs*43	-	frameshift	RB1_01362	unknown
g.2124delinsGA	c.65delinsGA	complex	01_ex	-	-	-	nonsense	RB1_00463	germline
g.2124_2125delins20	c.65_66ins20	Other/Complex	01_ex	-	-	-	unknown	RB1_01586	germline
g.2126_2163del	c.67_104del	deletion	01_ex	-	-	-	frameshift	RB1_00448	germline
g.2127C>T	c.68C>T	Substitution	01_ex	-	p.Pro23Leu	[Pro23Leu]	unknown	RB1_01456	-
g.2127_2132del	c.68_73del	deletion	01_ex	-	p.Pro23_Pro24del	Pro23_Pro24del	in-frame	RB1_00621	-
g.2131_2137del	c.72_78del	deletion	01_ex	-	p.(Pro26Leufs*37)	-	frameshift	RB1_00024	germline
g.2137_2138ins23	c.78_79ins23	Insertion	01_ex	-	-	-	frameshift	RB1_01673	germline
g.2137__2139del	c.78_80del	Deletion	01_ex	-	p.Pro29del	Pro29del	unknown	RB1_01448	-
g.2142del	c.83del	deletion	01_ex	-	-	-	-	RB1_01210	-
g.2142dupC	c.83dupC	Duplication	01_ex	-	-	-	frameshift	RB1_01584	somatic
g.2143dup	c.84dup	insertion	01_ex	-	-	-	frameshift	RB1_00648	-
g.2147G>T	c.88G>T (Reported 3 times)	substitution	01_ex	-	p.Glu30X	-	nonsense	RB1_00025	-
g.2148delA	c.89delA	Deletion	01_ex	-	-	-	frameshift	RB1_01671	germline
g.2150G>T	c.91G>T	Substitution	01_ex	Stop gained	p.Glu31X	-	unknown	RB1_01492	somatic
g.2157dup	c.98dup	insertion	01_ex	-	p.Glu34Argfs*15	-	unknown	RB1_01201	unknown
g.2159G>T	c.100G>T	Substitution	01_ex	-	p.Glu34X	-	nonsense	RB1_01411	germline
g.2162C>T	c.103C>T (Reported 3 times)	substitution	01_ex	-	p.Gln35X	-	nonsense	RB1_00319	-
g.2168_2171delinsCCAGA	c.109_112delinsCCAGA	Other/Complex	01_ex	-	-	-	frameshift	RB1_01585	germline
g.2168_2175del	c.109_116del	deletion	01_ex	-	p.Ser37Glyfs*9	-	frameshift	RB1_00799	unknown
g.2169dup	c.110dup	insertion	01_ex	-	-	-	frameshift	RB1_00492	-
g.2175delC	c.115delC	Deletion	01_ex	-	-	-	unknown	RB1_01460	-
g.2174delC	c.116del	Deletion	01_ex	-	p.Pro39Argfs*26	-	frameshift	RB1_01519	somatic
g.2177G>T	c.118G>T	substitution	01_ex	-	p.Glu40X	-	nonsense	RB1_01141	germline
g.2179_2183dup	c.120_124dup (Reported 2 times)	insertion	01_ex	-	p.Leu42Argfs*25	-	frameshift	RB1_01202	unknown
g.2181ins10	c.122ins10	Insertion	01_ex	-	-	-	frameshift	RB1_01712	somatic
g.2182_2195delinsGCC	c.123_136delinsGCC	Insertion/Deletion	1_ex	-	p.(Asp41Glufs*4)	-	frameshift	RB1_02021	germline
g.2183delC	c.124del	Deletion	01_ex	-	p.Leu42Cysfs*23	-	unknown	RB1_01520	somatic
g.2184insGGACC	c.125insGGACC	Insertion	01_ex	-	p.Pro43X	-	unknown	RB1_01462	unknown
g.2187dup	c.128dup	insertion	01_ex	-	p.Leu44Serfs*5	-	frameshift	RB1_00490	unknown
g.2189del	c.130del	deletion	01_ex	-	p.Leu44Serfs*21	-	frameshift	RB1_01355	unknown
g.2196G>A	c.137G>A (Reported 7 times)	substitution	01_ex	-	p.Arg46Lys/splice	Arg46Lys/splice	missense-splice	RB1_00372	-
g.2196G>C	c.137G>C (Reported 3 times)	substitution	01_ex	-	p.Arg46Thr/splice	Arg46Thr/splice	missense-splice	RB1_00620	-

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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)