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.56855dup	c.610dup	insertion	07_ex	-	-	-	frameshift	RB1_00733	somatic
g.56855G>T	c.610G>T	Substitution	07_ex	-	p.(Glu204*)	-	nonsense	RB1_01954	germline
g.56855_56856insG	c.610_611insG	Insertion	07_ex	-	-	-	frameshift	RB1_01603	somatic
g.56857A>G	c.612A>G	substitution	07_ex	-	p.Glu204Glu	Glu204Glu	unknown	RB1_01369	-
g.56857del	c.612del (Reported 2 times)	deletion	07_ex	-	-	-	frameshift	RB1_00429	-
g.56858del	c.613del (Reported 2 times)	deletion	07_ex	-	p.Val205Tyrfs*9	-	frameshift	RB1_00753	unknown
g.56864C>T	c.619C>T	substitution	07_ex	-	p.Gln207X	-	nonsense	RB1_01190	-
g.56867A>G	c.622A>G	Substitution	07_ex	-	p.Met208Val	[Met208Val]	missense	RB1_01399	-
g.56869insT	c.624_625insT (Reported 4 times)	insertion	07_ex	-	p.(Glu209*)	-	frameshift	RB1_00722	unknown
g.56870G>T	c.625G>T	Substitution	07_ex	-	p.Glu209X	-	unknown	RB1_01607	germline
g.56880delT	c.635del	Deletion	7	premature stop codon	p.Leu212Argfs*2	-	frameshift	RB1_01464	unknown
g.56880	c.635delT	Deletion	7	-	p.L212fsX214	-	frameshift	RB1_02112	germline
g.56885del	c.640del	Deletion	07_ex	-	p.Ile214Phefs*5	-	frameshift	RB1_01507	germline
g.56886dup	c.641dup	insertion	07_ex	-	-	-	-	RB1_00904	-
g.56886_56887ins8;56887T>A	c.641_642ins8;642T>A	Other/Complex	07_ex	-	-	-	unknown	RB1_01703	somatic
g.56889	c.644-660del	Deletion	7	-	p.S215fsX223	-	frameshift	RB1_02114	somatic
g.56889C>A	c.644C>A (Reported 8 times)	substitution	07_ex	-	p.Ser215X	-	nonsense	RB1_00058	-
g.56889C>G	c.644C>G	Substitution	07_ex	-	p.Ser215X	-	unknown	RB1_01602	germline
g.56891_56895del	c.646_650del	deletion	07_ex	-	-	-	frameshift	RB1_00873	-
g.56893delT	c.648del	Deletion	07_ex	-	p.Gln217Serfs*2	-	frameshift	RB1_01531	somatic
g.56894C>T	c.649C>T (Reported 2 times)	Substitution	07_ex	-	p.Gln217X	-	nonsense	RB1_01457	-
g.56897T>G	c.652T>G (Reported 2 times)	substitution	07_ex	-	p.Leu218Val	Leu218Val	unknown	RB1_01368	-
g.56901T>C	c.656T>C	substitution	07_ex	-	p.Met219Thr	Met219Thr	unknown	RB1_01376	-
g.56903C>G	c.658C>G (Reported 5 times)	substitution	07_ex	splice	p.Leu220Val/splice	-	missense-splice	RB1_00251	-
g.56903_56909del7	c.658_664del7	Deletion	07_ex	-	p.(Leu220Serfs*42)	-	frameshift	RB1_01890	unknown
g.56904_56905delTA	c.659_660delTA	Deletion	07_ex	-	-	-	frameshift	RB1_01704	somatic
g.56905	c.660-661delAT	Deletion	7	-	p.L220Lfs*3	-	frameshift	RB1_02118	somatic
g.56905_56906delAT	c.660_661delAT	Deletion	07_ex	-	p.(Val222Profs*2)	-	frameshift	RB1_01891	unknown
g.56907_56925del19	c.662_680del19	Deletion	07_ex	-	-	-	frameshift	RB1_01606	germline
g.56909_56910del	c.664_665del	deletion	07_ex	-	-	-	frameshift	RB1_00443	germline
g.56913	c.668T>C	Substitution	7	-	p.223L>P	-	unknown	RB1_02111	germline
g.56920T>G	c.675T>G	Substitution	07_ex	-	p.(Tyr225*)	-	nonsense	RB1_01934	unknown
g.56923del	c.678del	deletion	07_ex	-	p.Phe226Leufs*38	-	frameshift	RB1_00059	unknown
g.56927A>T	c.682A>T	substitution	07_ex	-	p.Lys228X	-	nonsense	RB1_00655	-
g.56928_56929dup	c.683_674dup	insertion	07_ex	-	p.Asn229fsX35	-	frameshift	RB1_00526	-
g.56930_56931del	c.685_686del	deletion	07_ex	-	-	-	frameshift	RB1_00874	-
-	c.687del	Deletion	07_ex	-	p.Ser230Hisfs*34	-	frameshift	RB1_01966	germline
g.56933T>C	c.688T>C	substitution	07_ex	-	p.Ser230Pro	Ser230Pro	unknown	RB1_01333	-
g.56935C>A	c.689C>A	substitution	07_ex	-	p.Ser230X	-	nonsense	RB1_01191	-
g.56934C>G	c.689C>G	Substitution	07_ex	-	p.(Ser230*)	-	nonsense	RB1_01935	unknown
g.56935dup	c.690dup	insertion	07_ex	-	-	-	frameshift	RB1_00729	germline
g.56939C>T	c.694C>T	substitution	07_ex	-	p.Pro232Ser	-	missense	RB1_00978	-
g.56939delC	c.694delC	Deletion	07_ex	-	-	-	unknown	RB1_01576	germline
g.56944_56947dup	c.699_702dup	insertion	07_ex	-	p.Leu235Valfs*7	-	frameshift	RB1_00060	unknown
g.56946T>A	c.702T>A	Substitution	7	-	-	-	nonsense	RB1_01538	germline
-	c.709del	Deletion	07_ex	-	p.Glu237Asnfs*27	-	frameshift	RB1_01967	germline
g.56954G>T	c.709G>T (Reported 2 times)	Substitution	07_ex	-	p.Glu237X	-	unknown	RB1_01604	unknown
g.56958del	c.713del	Deletion	07_ex	-	p.(Pro238Hisfs*26)	-	frameshift	RB1_02048	germline
g.56962T>G	c.717T>G (Reported 2 times)	substitution	07_ex	-	p.Tyr239X	-	nonsense	RB1_00383	-
g.56962_56964delinsA	c.717_718+1delinsA (Reported 2 times)	complex	07_ex	altered splicing	-	-	splice	RB1_00420	-
g.56963A>T	c.718A>T	substitution	07_ex	-	p.Lys240X/splice	-	nonsense	RB1_00491	-
g.56963_56964insA	c.718_719insA	Substitution	07_ex	-	-	-	frameshift	RB1_01605	germline
g.56963_56964insAT	c.718_719insAT	Insertion	07_ex	-	-	-	frameshift	RB1_01915	unknown
g.56968G>A	c.718+5G>A (Reported 2 times)	substitution	07_in	altered splicing	-	-	splice	RB1_00524	-
g.56989T>C	c.718+26T>C	substitution	07_in	-	variant	-	variant	RB1_01022	-
g.56998A>T	c.718+35A>T	substitution	07_in	-	variant	-	variant	RB1_01023	-
g.57101G>A	c.718+138G>A	substitution	07_in	-	variant	-	variant	RB1_01024	-
g.59473T>C	c.719-178T>C	substitution	07_in	-	variant	-	variant	RB1_01025	-
g.59639_59834del	c.719-12_861+41del	deletion	07_in	-	-	-	-	RB1_00909	-
g.59642C>G	c.719-9C>G (Reported 2 times)	substitution	07_in	-	intron inclusion 8bp	-	splice	RB1_00539	-
g.59646_59649delins18	c.719-5_719-2delins18	Other/Complex	07_in	Splice	-	-	splice	RB1_01882	unknown
-	c.719-3C>G	Substitution	07_in	-	-	-	splice	RB1_01968	germline
g.59649A>G	c.719–2A>G	Substitution	07_in	Altered splicing	-	-	unknown	RB1_01509	germline
g.56963insAA	c.720_721dup	insertion	07_ex	-	p.(Thr241Lysfs*24)	-	frameshift	RB1_00061	unknown
g.59651_59656del	c.719_724del	Deletion	08_ex	-	p.Lys240_Ala242delinsThr	-	unknown	RB1_01807	somatic
g.59653_59657dup	c.721_725dup	Insertion	08_ex	-	p.(Val243Glnfs*23)	-	frameshift	RB1_02049	germline
g.59655_59662dup	c.723_730dup	Duplication	08_ex	-	p.(Ile244Lysfs*23)	-	frameshift	RB1_01467	somatic
g.59659_59663delins18	c.727_731delins18	complex	08_ex	-	p.Val243X	-	frameshift	RB1_00533	-
g.59662dup	c.730dup	Insertion	08_ex	-	p.(Ile244Asnfs*4)	-	frameshift	RB1_02050	germline
g.59663_59666delinsGG	c.731_734delinsGG	Other/Complex	08_ex	-	p.(Ile244Argfs*3)	-	frameshift	RB1_01916	unknown
g.59664_59665del	c.732_733del	Deletion	08_ex	-	p.(Pro245Hisfs*2)	-	frameshift	RB1_01866	germline
-	c.735_744delinsTGTCGACCC	Insertion/Deletion	08_ex	-	p.Ile246Valfs*18	-	frameshift	RB1_01969	germline
g.59670dup	c.738dup	insertion	08_ex	-	p.(Asn247*)	-	frameshift	RB1_00361	germline
g.59677ins8	c.745_746ins8	insertion	08_ex	-	-	-	frameshift	RB1_00453	germline
g.59678C>A	c.746C>A	Substitution	08_ex	-	p.Ser249X	-	nonsense	RB1_01610	germline
g.59678C>T	c.746C>T (Reported 2 times)	substitution	08_ex	-	p.Ser249X	-	nonsense	RB1_00419	-
g.59683C>T	c.751C>T (Reported 70 times)	substitution	08_ex	-	p.Arg251X	-	nonsense	RB1_00062	-
g.59695C>T	c.763C>T (Reported 46 times)	substitution	08_ex	-	p.Arg255X	-	nonsense	RB1_00063	-
g.59699del	c.767del	deletion	08_ex	-	p.Gly256Valfs*8	-	frameshift	RB1_00064	unknown
g.59699dup	c.767dup	insertion	08_ex	-	p.Gln257Serfs*14	-	frameshift	RB1_00065	unknown
g.59701C>T	c.769C>T (Reported 3 times)	substitution	08_ex	-	p.Gln257X	-	nonsense	RB1_00979	-
g.59703_59704insAG	c.771_772insAG	Insertion	08_ex	-	-	-	unknown	RB1_01425	-
g.59704_59708del	c.772_776del (Reported 10 times)	deletion	08_ex	-	p.Asn258Glufs*11	-	frameshift	RB1_00229	unknown
g.59705del	c.773del	Deletion	08_ex	-	p.Asn258Thrfs*6	-	frameshift	RB1_01403	unknown
g.59706_59712dup	c.774_780dup	Insertion	08_ex	-	p.(Ala261Glnfs*12)	-	frameshift	RB1_02051	germline
g.59707del	c.775del	deletion	08_ex	-	p.Arg259Glyfs*5	-	frameshift	RB1_00066	unknown
g.59710_59711dup	c.778_779dup	insertion	08_ex	-	-	-	-	RB1_00894	-
g.59718del	c.786del	deletion	08_ex	-	p.(Ile263*)	-	frameshift	RB1_00297	germline
g.59725A>T	c.793A>T	Substitution	08_ex	Stop gained	p.Lys265X	-	unknown	RB1_01490	somatic
g.59725_59743del	c.793_811del	deletion	08_ex	-	p.(Lys265Glnfs*15)	-	frameshift	RB1_00983	somatic
g.59726_50730dup	c.794_798dup	insertion	08_ex	-	p.Leu267Asnfs*3	-	frameshift	RB1_01354	unknown
g.59728C>T	c.796C>T (Reported 3 times)	substitution	08_ex	-	p.Gln266X	-	nonsense	RB1_00067	-
g.59730_59731dup	c.798_799dup	insertion	08_ex	-	p.Leu267Hisfs*2	-	frameshift	RB1_01205	unknown
g.59731_59768del	c.799_836del	Deletion	08_ex	-	p.Leu267Argfs*3	-	frameshift	RB1_01532	somatic
g.59734G>T	c.802G>T	Substitution	08_ex	-	p.Glu268X	-	nonsense	RB1_01707	somatic
g.59736ins8	c.804_805ins8	insertion	08_ex	-	-	-	-	RB1_00878	-
g.59738_59763del	c.806_831del	deletion	08_ex	-	-	-	frameshift	RB1_00879	-
g.59743dup	c.811dup	insertion	08_ex	-	p.Thr271Asnfs*5	-	frameshift	RB1_00981	germline
g.59744_59745insC	c.812_813insC	Insertion	08_ex	-	-	-	frameshift	RB1_01713	somatic
g.59754del	c.822del	deletion	08_ex	-	p.Ile274Metfs*12	-	unknown	RB1_01218	unknown

401 - 500
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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)