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

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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.

1753 entries
entries per page

g-position

cDNA change

Type

Exon

RNA change

Protein

RBWiki

expected consequence type

DB-ID

originated_in


g.59755G>T	c.825G>T	Substitution	8	-	-	-	nonsense	RB1_01540	germline
g.59759_59778del20	c.827_846del20	Deletion	08_ex	-	p.(Leu277*)	-	nonsense	RB1_01936	unknown
g.59763_59764del	c.831_832del	deletion	08_ex	-	p.(Cys278*)	-	frameshift	RB1_00774	unknown
g.59764del	c.832del	Deletion	08_ex	-	p.(Cys278Valfs*8)	-	frameshift	RB1_02057	germline
g.59764dup	c.832dup (Reported 2 times)	Insertion	8	-	p.Cys278Leufs*2	-	frameshift	RB1_01422	unknown
g.59765_59766delGT	c.833_834delGT	Deletion	08_ex	-	p.(Cys278*)	-	nonsense	RB1_01937	unknown
g.59769_59783del	c.837_851del	deletion	08_ex	-	-	-	frameshift	RB1_00891	-
g.59770G>T	c.838G>T (Reported 2 times)	substitution	08_ex	-	p.Glu280X	-	nonsense	RB1_00721	-
g.59776G>T	c.844G>T	substitution	08_ex	-	p.Glu282X	-	nonsense	RB1_00272	somatic
g.59780_59784del	c.848_852del	Deletion	08_ex	-	p.(Cys283Tyrfs*3)	-	frameshift	RB1_01408	unknown
g.59780_59793del	c.848_861del	deletion	08_ex	altered splicing	-	-	splice	RB1_00373	somatic
g.59780_59798del	c.848_861+5del	deletion	08_ex	altered splicing	-	-	splice	RB1_00479	somatic
g.59784dup	c.852dup	insertion	08_ex	-	p.Ile285Tyrfs*3	-	frameshift	RB1_00346	germline
g.59785delAinsCGG	c.853delAinsCGG	Other/Complex	08_ex	-	-	-	unknown	RB1_01611	germline
g.59789A>G	c.857A>G	Substitution	08_ex	-	p.Asp286Gly	Asp286Gly	unknown	RB1_01433	-
g.59792del	c.860del	deletion	08_ex	-	-	-	-	RB1_01356	-
g.59793G>A	c.861G>A	Substitution	08_ex	Splice	p.(=)	-	splice	RB1_01878	unknown
g.59793G>C	c.861G>C (Reported 3 times)	substitution	08_ex	p.Glu287Asp/skip exon 8	p.Glu287Asp/skip exon 8	-	missense-splice	RB1_00540	-
g.59793G>T	c.861G>T	Substitution	08_ex	Substitution	p.(Glu287Asp)	-	splice	RB1_01875	unknown
g.59798ins92	c.861_862ins92	insertion	08_in	altered splicing	-	-	splice	RB1_00569	-
g.59794G>A	c.861+1G>A	Substitution	08_in	splice	-	-	splice	RB1_01677	somatic
g.59794G>T	c.861+1G>T	Substitution	08_in	splice	-	-	splice	RB1_01609	germline
g.59795T>C	c.861+2T>C	substitution	08_in	altered splicing	-	-	splice	RB1_00969	-
g.59808T>C	c.861+15T>C	substitution	08_in	-	variant	-	variant	RB1_00194	-
g.59960A>G	c.861+167A>G	substitution	08_in	-	variant	-	variant	RB1_01103	-
g.60621T>G	c.861+828T>G	substitution	08_in	-	splice new exon	-	splice new exon	RB1_01159	-
g.61670T>G	c.862-60T>G	substitution	08_in	-	variant	-	variant	RB1_01026	-
g.61703A>C	c.862-27A>C (Reported 2 times)	substitution	08_in	-	variant	-	variant	RB1_01027	-
g.61720T>C	c.862-10T>C (Reported 5 times)	substitution	08_in	altered splicing	-	-	splice	RB1_00412	-
g.61720T>G	c.862-10T>G	substitution	08_in	altered splicing	-	-	in-frame	RB1_00418	unknown
-	c.862-5T>G (Reported 2 times)	Substitution	08_in	-	-	-	splice	RB1_01970	germline
-	c.862-2del	Deletion	08_in	-	-	-	splice	RB1_01971	germline
g.45855T>G	c.596T>G	Substitution	9_ex	stop gained	p.Leu199*	-	nonsense	RB1_02007	somatic
g.61728A>G	c.862-2A>G	Substitution	09_in	splice	-	-	splice	RB1_01717	somatic
g. 61729G>A	c.862-1G>A (Reported 2 times)	Substitution	09_in	Splice site	-	-	unknown	RB1_01574	germline
g. 61729G>C	c.862-1G>C	Substitution	09_in	splice	-	-	splice	RB1_01680	somatic
g.61731T>C	c.863T>C	substitution	09_ex	-	p.Val288Ala	-	missense	RB1_00881	-
g.61731_61732del	c.863_864del	Deletion	09_ex	-	-	-	unknown	RB1_01679	germline
g.61732insA	c.864insA	Insertion	09_ex	-	-	-	frameshift	RB1_01792	somatic
g.61733A>T	c.865A>T	Substitution	09_ex	-	p.(Lys289*)	-	nonsense	RB1_01938	unknown
g.61737del	c.869del (Reported 2 times)	Deletion	09_ex	-	-	-	unknown	RB1_01780	germline
g.61737dup	c.869dup (Reported 3 times)	insertion	09_ex	-	p.Asn290Lysfs*20	-	frameshift	RB1_00364	unknown
g.61744	c.876T>G	Substitution	09_ex	-	p.Tyr292X	-	nonsense	RB1_01615	somatic
g.61744dupT	c.878dup	Duplication	09_ex	-	p.Lys294Glnfs*16	-	unknown	RB1_01542	unknown
g.61748_61763dup	c.880_895dup	insertion	09_ex	-	p.(Phe299*)	-	frameshift	RB1_00068	unknown
g.61749delA	c.884delA	Deletion	09_ex	-	-	-	frameshift	RB1_01612	germline
g.61748dupA	c.884dup	Duplication	09_ex	-	p.Asn295Lysfs*15	-	unknown	RB1_01543	unknown
g.61750_61753del	c.885_888del	deletion	09_ex	-	p.(Asn295Lysfs*5)	-	frameshift	RB1_00534	unknown
g.61756del	c.888del	deletion	09_ex	-	p.Phe296Leufs*5	-	frameshift	RB1_00499	unknown
g.61757del	c.889del	Deletion	09_ex	-	p.Ile297Tyrfs*4	-	frameshift	RB1_01579	germline
g.61761del	c.893del (Reported 2 times)	deletion	09_ex	-	p.Pro298Leufs*3	-	frameshift	RB1_00776	unknown
g.61764_61777del14	c.896_909del14	Deletion	09_ex	-	p.(Phe299Trpfs*6)	-	frameshift	RB1_01939	unknown
g.61770dup	c.902dup	insertion	09_ex	-	p.Asn301Lysfs*9	-	frameshift	RB1_00985	germline
g.61773delC	c.905delC	Deletion	09_ex	-	-	-	unknown	RB1_01613	germline
-	c.907_908del	Deletion	09_ex	-	p.Leu303Trpfs*6	-	frameshift	RB1_01972	germline
g.61776T>A	c.908T>A	substitution	09_ex	-	p.Leu303His	-	missense	RB1_00705	-
g.61777del	c.909del	deletion	09_ex	-	p.Gly304Aspfs*3	-	frameshift	RB1_00069	unknown
g.61778G>T	c.910G>T	Substitution	09_ex	-	p.Gly304X	-	unknown	RB1_01614	germline
g.61782T>G	c.914T>G	Substitution	09_ex	-	p.Leu305Arg	Leu305Arg	unknown	RB1_01434	-
g.61784_61790del	c.916_922del	Deletion	09_ex	-	p.(Val306Leufs*24)	-	frameshift	RB1_02058	germline
g.61784_61801del	c.916_933del	Deletion	09_ex	-	p.(Val306_Leu311del)	-	in-frame	RB1_01471	somatic
g.61788C>T	c.920C>T (Reported 5 times)	substitution	09_ex	-	p.Thr307Ile	Thr307Ile	missense	RB1_00395	-
g.61788_89delinsTGGACT	c.920_921delinsTGGACT	complex	09_ex	-	p.Thr307Metfs*4	-	unknown	RB1_01273	unknown
g.61796del	c.928del (Reported 2 times)	deletion	09_ex	-	-	-	frameshift	RB1_00883	-
g.61796G>T	c.928G>T	substitution	09_ex	-	p.Gly310X	-	nonsense	RB1_00658	-
g.61797G>A	c.929G>A (Reported 4 times)	substitution	09_ex	-	p.Gly310Glu	-	missense variant	RB1_00070	-
g.61799del	c.931del	deletion	09_ex	-	p.Leu311Phefs*21	-	frameshift	RB1_01219	unknown
g.61806A>G	c.938A>G	substitution	09_ex	-	p.Glu313Gly/splice	-	missense-splice	RB1_00500	-
g.61807G>A	c.939G>A (Reported 4 times)	substitution	09_ex	-	del:e9/p.Glu313Asp	-	missense-splice	RB1_00377	-
g.61807G>T	c.939G>T	substitution	09_ex	-	p.Glu313Asp/splice	-	splice	RB1_01243	-
g.61811A>G	c.939+4A>G	substitution	09_in	altered splicing	-	-	splice	RB1_01257	-
g.61894T>C	c.939+87T>C	substitution	09_in	-	variant	-	variant	RB1_01030	-
g.64219C>T	c.940-111C>T	substitution	09_in	-	variant	-	variant	RB1_01104	-
g.64295T>C	c.940-35T>C	substitution	09_in	-	variant	-	variant	RB1_01072	-
-	c.940-2A>C	Substitution	09_in	-	-	-	splice	RB1_01973	germline
g.64328A>G	c.940-2A>G (Reported 3 times)	substitution	09_in	altered splicing	-	-	splice	RB1_00312	-
g.64328A>T	c.940-2A>T (Reported 2 times)	Substitution	09_in	altered splicing	-	-	unknown	RB1_01473	somatic
g.64329G>A	c.940-1G>A	Substitution	09_in	splice	-	-	splice	RB1_01709	somatic
g.64329G>C	c.940-1G>C (Reported 2 times)	substitution	09_in	altered splicing	-	-	splice	RB1_00195	-
g.64329G>T	c.940-1G>T	substitution	09_in	altered splicing	-	-	splice	RB1_00223	-
g.61808G>A	c.940G>A	Substitution	09_in	-	-	-	unknown	RB1_01461	unknown
g.64341_64344del	c.951_954del (Reported 4 times)	deletion	10_ex	-	p.(Ser318Asnfs*13)	-	frameshift	RB1_00320	unknown
g.64342del	c.952del	deletion	10_ex	-	p.Ser318Leufs*14	-	frameshift	RB1_00735	germline
g.64342dup	c.952dup	insertion	10_ex	-	p.Ser318Phefs*2	-	frameshift	RB1_00284	somatic
g.64344del	c.954del	deletion	10_ex	-	p.(Lys319Asnfs*13)	-	frameshift	RB1_00224	germline
g.64346A>G	c.956A>G (Reported 2 times)	substitution	10_ex	-	p.Lys319Arg	-	missense	RB1_00696	-
g.64348C>T	c.958C>T (Reported 113 times)	substitution	10_ex	-	p.Arg320X	-	nonsense	RB1_00072	-
g.64348del	c.958del	Deletion	10_ex	-	p.(Arg320Aspfs*12)	-	frameshift	RB1_02059	germline
g.64353C>A	c.963C>A (Reported 3 times)	substitution	10_ex	-	p.Tyr321X	-	nonsense	RB1_00659	-
-	c.963C>G	Substitution	10_ex	-	p.(Tyr321*)	-	nonsense	RB1_02037	unknown
g.64354G>T	c.964G>T (Reported 4 times)	substitution	10_ex	-	p.Glu322X	-	nonsense	RB1_00357	-
g.64357G>T	c.967G>T (Reported 5 times)	substitution	10_ex	-	p.Glu323X	-	nonsense	RB1_00074	-
g.64360dupA	c.970dup	Duplication	10_ex	-	p.Ile324Asnfs*4	-	unknown	RB1_01544	somatic
g.64362_64365del4	c.972_975delTTAT	Deletion	10_ex	-	p.(Tyr325Leufs*6)	-	frameshift	RB1_01940	unknown
g.64363del	c.973del	deletion	10_ex	-	p.Tyr325Ilefs*7	-	frameshift	RB1_00371	germline
g.64365T>A	c.975T>A	Substitution	10_ex	-	p.Tyr325X	-	nonsense	RB1_01510	somatic
g.64365T>G	c.975T>G	substitution	10_ex	-	p.Tyr325X	-	nonsense	RB1_00480	-
g.64368del	c.978del	deletion	10_ex	-	-	-	frameshift	RB1_00498	-
g.64369_64423dup	c.979_1033dup (Reported 2 times)	insertion	10_ex	-	p.Thr345Lysfs*3	-	frameshift	RB1_00075	unknown
g.64372A>C	c.982A>C	Substitution	10_ex	-	-	-	missense	RB1_01504	somatic

501 - 600
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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)