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.42029_42030delinsC	c.484_485delinsC	complex	04_ex	-	p.Phe162Profs*13	-	frameshift	RB1_00052	unknown
g.42029_42030delTTins	c.484_485delTTins	Other/Complex	04_ex	-	p.Phe162ProfsX13	-	frameshift	RB1_01527	somatic
g.42030dupT	c.485dupT	Duplication	04_ex	-	-	-	unknown	RB1_01700	somatic
g.42035ins27	c.490_491ins27 (Reported 2 times)	insertion	04_ex	-	165X	-	frameshift	RB1_00694	-
g.42038delT	c.493del	Deletion	04_ex	-	p.Leu165Trpfs*10	-	frameshift	RB1_01528	unknown
g.42041G>T	c.496G>T	Substitution	04_ex	-	p.Glu166X	-	nonsense	RB1_01847	somatic
g.42046G>A	c.500+1G>A	Substitution	04_in	splice	-	-	splice	RB1_01597	somatic
g.42047del	c.500+2del	deletion	04_in	altered splicing	-	-	splice	RB1_00189	-
g.42068G>T	c.500+23G>T (Reported 2 times)	substitution	04_in	-	variant	-	variant	RB1_01013	-
g.42091A>G	c.500+46A>G	substitution	04_in	-	variant	-	variant	RB1_01014	-
g.42127	c.500+82A>G	Substitution	04_in	-	-	-	unknown	RB1_01829	unknown
g.42216A>G	c.500+171A>G	substitution	04_in	-	variant	-	variant	RB1_01099	-
g.42244A>T	c.500+199A>T	substitution	04_in	-	variant	-	variant	RB1_01100	-
g.44568delA	c.501-100delA	Deletion	04_in	-	-	-	unknown	RB1_01830	somatic
g.44591G>A	c.501-77G>A (Reported 2 times)	substitution	04_in	-	variant	-	variant	RB1_01015	-
g.44630G>A	c.501-38G>A (Reported 2 times)	substitution	04_in	-	variant	-	variant	RB1_01016	-
g.44646G>T	c.501-22G>T	substitution	04_in	-	variant	-	variant	RB1_01017	-
g.44653T>G	c.501-15T>G (Reported 2 times)	substitution	04_in	altered splicing	-	-	splice	RB1_01255	-
g.44667G>A	c.501-1G>A (Reported 7 times)	substitution	04_in	altered splicing	-	-	splice	RB1_00190	-
g.44667G>C	c.501-1G>C	Substitution	04_in	splice	-	-	splice	RB1_01601	germline
g.44667G>T	c.501-1G>T	substitution	04_in	altered splicing	-	-	splice	RB1_00450	somatic
promoter	methylation	Other/Complex	5-UTR	-	-	-	promoter	RB1_02119	somatic
g.44669A>C	c.502A>C	substitution	05_ex	-	p.Thr168Pro	Thr168Pro	missense	RB1_01351	-
g.44686T>A	c.519T>A	Substitution	05_ex	-	p.Tyr173X	-	unknown	RB1_01675	somatic
g.44693C>T	c.526C>T (Reported 4 times)	substitution	05_ex	-	p.Gln176X	-	nonsense	RB1_00439	-
g.44695_44699dup	c.528_532dup	insertion	05_ex	-	p.Ser178Asnfs*10	-	frameshift	RB1_00053	unknown
g.44699_44702dup	c.532_535dup	Insertion	5_ex	-	p.(Ser179Lysfs*7)	-	frameshift	RB1_02033	germline
g.44699_44706del	c.532_539del	deletion	05_ex	-	p.Ser178Aspfs*4	-	unknown	RB1_01216	unknown
g.44700del	c.533del	deletion	05_ex	-	p.Ser178Thrfs*8	-	frameshift	RB1_00254	germline
-	c.539C>G	Substitution	5	nd	p.Ser180X/exon 5 skip	-	splice	RB1_01412	-
g.44707G>A	c.539+1G>A	substitution	05_in	altered splicing	-	-	splice	RB1_00598	-
g.44707G>C	c.539+1G>C	Substitution	05_in	splice	-	-	splice	RB1_01676	germline
g.45700T>A	c.540-99T>A	Substitution	05_in	-	-	-	unknown	RB1_01831	somatic
g.45702_45703insT	c.540-97_540-96insT	Insertion	05_in	-	-	-	unknown	RB1_01832	somatic
g.45718C>T	c.540-81C>T	substitution	05_in	-	variant	-	variant	RB1_01101	-
g.45759_45760insT	c.540-40_540-39insT	Insertion	05_in	-	-	-	unknown	RB1_01833	unknown
g.45776dup	c.540-23dup (Reported 2 times)	insertion	05_in	-	variant	-	variant	RB1_01018	-
g.45787T>G	c.540-12T>G	Substitution	05_in	splice	-	-	splice	RB1_01608	germline
g.45797A>G	c.540-2A>G (Reported 2 times)	substitution	05_in	altered splicing	-	-	splice	RB1_00393	-
g.45798G>A	c.540-1G>A	Substitution	05_in	splice	-	-	splice	RB1_01598	germline
g.45776-45866del	c.540-607del	Other/Complex	06_ex	-	-	-	unknown	RB1_01468	unknown
g.45801del	c.542del	deletion	06_ex	-	p.Ile181Asnfs*5	-	frameshift	RB1_01139	germline
g.45800_45801insT	c.542dup	Insertion	06_ex	Splice site	p.Ser182Ilefs*3	-	frameshift	RB1_01529	somatic
g.45801T>C	c.542T>C	substitution	06_ex	-	p.Ile181Thr	Ile181Thr	missense-splice	RB1_00723	-
g.45812dup	c.553dup	insertion	06_ex	-	p.Ile185Asnfs*18	-	frameshift	RB1_00054	unknown
g.45813T>C	c.554T>C	substitution	06_ex	-	p.Ile185Thr	[Ile185Thr]	missense	RB1_00055	-
g.45818T>A	c.559T>A	Substitution	06_ex	-	p.Ser187Thr	[Ser187Thr]	missense	RB1_01404	-
g.45823_45830del	c.564_571del	Deletion	6_ex	-	p.(Leu189Lysfs*11)	-	frameshift	RB1_02034	germline
g.45830C>T	c.571C>T	substitution	06_ex	-	p.Leu191Leu	Leu191Leu	unknown	RB1_01353	-
g.45833A>T	c.574A>T	Substitution	06_ex	-	p.(Lys192*)	-	nonsense	RB1_02096	germline
g.45834_45835delAA	c.575_576delAA	Deletion	06_ex	-	-	-	frameshift	RB1_01757	somatic
g.45834delAAdelP_27	c.575_583del	deletion	06_ex	-	-	-	frameshift	RB1_00971	-
g.45834_45835del	c.576_577del	deletion	06_ex	-	p.(Lys192Asnfs*10)	-	frameshift	RB1_00531	germline
g.45836del	c.577del	Deletion	6_ex	-	p.(Val193Phefs*8)	-	frameshift	RB1_02035	germline
g.45838_4546delinsA	c.579_587delinsA	Insertion/Deletion	06_ex	-	p.(Ser194Hisfs*6)	-	frameshift	RB1_02046	germline
g.45842dupT	c.583dup	Duplication	06_ex	-	p.Trp195Leufs*8	-	frameshift	RB1_01530	somatic
g.45843T>C	c.583T>C	Substitution	06_ex	-	p.Trp195Arg	-	missense	RB1_02101	germline
g.45843G>A	c.584G>A	substitution	06_ex	-	p.Trp195X	-	nonsense	RB1_00963	somatic
-	c.584G>T	Substitution	06_ex	-	p.(Trp195Leu)	-	missense	RB1_02043	unknown
g.45843G>A	c.585G>A	Substitution	06_ex	-	p.Trp195X	-	unknown	RB1_01702	somatic
g.45846T>C	c.587T>C	substitution	06_ex	-	p.Ile196Thr	Ile196Thr	unknown	RB1_01323	-
g.45850dup	c.591dup	insertion	06_ex	-	p.Phe198Ilefs*5	-	frameshift	RB1_00982	germline
g.45850insT	c.591insT	Insertion	06_ex	-	-	-	frameshift	RB1_01701	somatic
g.45851_45857del	c.592_598del	deletion	06_ex	-	p.(Phe198*)	-	frameshift	RB1_00654	unknown
g.45855del	c.596del	deletion	06_ex	-	p.Leu199Tyrfs*2	-	frameshift	RB1_00728	germline
g.45855dup	c.596dup	insertion	06_ex	-	p.(Leu199Phefs*4)	-	frameshift	RB1_00887	unknown
g.45855T>A	c.596T>A	substitution	06_ex	-	p.Leu199X	-	nonsense	RB1_00056	-
g.45858T>A	c.599T>A	Substitution	06_ex	-	p.Leu200X	-	unknown	RB1_01695	somatic
g.45858T>G	c.599T>G	Substitution	06_ex	-	p.Leu200*	-	nonsense	RB1_01668	germline
g.45861del	c.602del (Reported 2 times)	deletion	06_ex	-	p.Ala201Valfs*13	-	frameshift	RB1_00057	unknown
g.45863A>T	c.604A>T	substitution	06_ex	-	p.Lys202X	-	nonsense	RB1_00972	-
g.45864_45867del	c.605_608del	deletion	06_ex	-	nonsense	-	frameshift	RB1_00242	germline
g.45864_45867delins10	c.605_608delins10	complex	06_ex	altered splicing	-	-	splice	RB1_00421	germline
g.45865del	c.606del (Reported 2 times)	deletion	06_ex	-	p.Lys204Alafs*10	-	frameshift	RB1_00532	unknown
g.45866_45867ins74	c.607_608ins74	Insertion	06_ex	-	-	-	unknown	RB1_01599	unknown
g.45866_45869del	c.607_610del	deletion	06_ex	-	-	-	frameshift	RB1_00869	-
g.45866_45869delins10	c.607_610delins10	Other/Complex	06_ex	-	-	-	frameshift	RB1_01600	germline
g.45867del	c.607+1del (Reported 2 times)	deletion	06_in	altered splicing	-	-	splice	RB1_00472	-
g.45867G>A	c.607+1G>A (Reported 9 times)	substitution	06_in	altered splicing	-	-	splice	RB1_00241	-
g.45867G>C	c.607+1G>C (Reported 10 times)	substitution	06_in	altered splicing	-	-	splice	RB1_00192	-
g.45867G>T	c.607+1G>T (Reported 21 times)	substitution	06_in	altered splicing	-	-	splice	RB1_00191	-
g.45867insC	c.607+1_607+2insC	insertion	06_in	altered splicing	-	-	splice	RB1_01274	-
g.45868T>G	c.607+2T>G	substitution	06_in	altered splicing	-	-	splice	RB1_00538	-
g.45885delT	c.607+19delT	Deletion	06_in	-	-	-	unknown	RB1_01834	unknown
g.45898delT	c.607+32delT	Deletion	06_in	-	-	-	unknown	RB1_01835	somatic
g.46065T>A	c.607+199T>A	substitution	06_in	-	variant	-	variant	RB1_01019	-
g.53437A>G	c.608-3416A>G (Reported 2 times)	substitution	06_in	-	new exon	-	splice	RB1_00929	-
g.56762T>C	c.608-91T>C	Substitution	06_in	-	-	-	unknown	RB1_01836	somatic
g.56822C>T	c.608-31C>T	substitution	06_in	-	variant	-	variant	RB1_01021	-
g.56826C>T	c.608-27C>T	substitution	06_in	-	-	-	-	RB1_01066	-
g.56829T>A	c.608-24T>A	substitution	06_in	-	variant	-	variant	RB1_01020	-
g.56834delA	c.608-19delA	Substitution	06_in	-	-	-	unknown	RB1_01837	somatic
g.56841T>G	c.608-12T>G	substitution	06_in	altered splicing	-	-	splice	RB1_00943	-
g.56851A>G	c.608-2A>G (Reported 2 times)	substitution	06_in	altered splicing	-	-	splice	RB1_01256	-
g.56852del	c.608-1del (Reported 2 times)	deletion	06_in	altered splicing	-	-	splice	RB1_00545	-
g.45866G>A	c.608-1G>A	substitution	06_in	altered splicing	-	-	splice	RB1_00870	-
g.56905_56906del	c.660_661del	Deletion	06_ex	-	p.(Val222Profs*2)	-	frameshift	RB1_02047	germline
g.48934137_48934153del	c.608-16_608del	Deletion	7	r.608_718del	p.(Gly203_Lys240delinsGlu)	-	in-frame	RB1_02115	germline
g.56854G>A	c.609G>A	substitution	07_ex	altered splicing	-	-	splice	RB1_00689	-
g.56855del	c.610del (Reported 3 times)	deletion	07_ex	-	-	-	frameshift	RB1_00872	-

301 - 400
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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)