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.162255_162256delCC	c.2377_2378delCC	Substitution	23_ex	-	p.(Pro793*)	-	nonsense	RB1_01949	unknown
g.162258_162267del	c.2380_2389del	deletion	23_ex	-	p.Ser794Tyrfs*13	-	frameshift	RB1_00176	unknown
g.162259G>T	c.2381G>T	Substitution	23_ex	-	p.Ser794Ile	-	missense	RB1_01398	-
g.162261dup	c.2383dup	Insertion	23_ex	-	p.(Ser795Phefs*20)	-	frameshift	RB1_02093	germline
g.162262C>G	c.2384C>G	substitution	23_ex	-	p.Ser795X	-	nonsense	RB1_00959	-
g.162264delC	c.2386del	Substitution	23_ex	-	p.Leu797Tyrfs*13	-	unknown	RB1_01801	unknown
g.162264_162273del	c.2386_2395del	deletion	23_ex	-	p.Pro796Phefs*11	-	frameshift	RB1_00177	unknown
g.162266del	c.2388del (Reported 2 times)	deletion	23_ex	-	p.Leu797Tyrfs*13	-	frameshift	RB1_00537	unknown
g.162268del	c.2390del	deletion	23_ex	-	p.Leu797Tyrfs*13	-	frameshift	RB1_00336	somatic
g.162268T>A	c.2390T>A	Substitution	23_ex	p.Leu797X	-	-	nonsense	RB1_01501	germline
g.162268T>G	c.2390T>G	substitution	23_ex	-	p.Leu797X	-	nonsense	RB1_00731	germline
g.162268_162284del	c.2390_2406del	Deletion	23_ex	-	-	-	unknown	RB1_01802	somatic
g.162269dup	c.2391dup	insertion	23_ex	-	p.Arg798Thrfs*17	-	frameshift	RB1_00528	unknown
g.162270C>T	c.2392C>T	substitution	23_ex	-	p.Arg798Trp	-	-	RB1_01373	-
g.162271G>A	c.2393G>A (Reported 2 times)	substitution	23_ex	-	p.Arg798Gln	-	missense	RB1_00572	-
g.162272dup	c.2394dup	insertion	23_ex	-	p.Ile799Aspfs*16	-	frameshift	RB1_00303	unknown
g.162279G>T	c.2401G>T (Reported 2 times)	substitution	23_ex	-	p.Gly801X	-	nonsense	RB1_00945	-
g.162280delG	c.2402delG	Deletion	23_ex	-	-	-	unknown	RB1_01658	germline
-	c.2403del	Substitution	23_ex	-	p.(Asn803Thrfs*7)	-	frameshift	RB1_02041	unknown
g.162286dupA	c.2408dupA	Duplication	23_ex	-	p.(Asn803Lysfs*12)	-	frameshift	RB1_01905	unknown
g.162293del	c.2415del (Reported 2 times)	deletion	23_ex	-	p.(Tyr805*)	-	nonsense	RB1_00178	unknown
-	c.2416dup	Duplication	23_ex	-	p.Ile806Asnfs*9	-	frameshift	RB1_01995	germline
g.162294_ g.162295delAT	c.2416_17delAT	Deletion	23_ex	-	-	-	frameshift	RB1_01685	somatic
g.162298C>A	c.2420C>A	Substitution	23_ex	-	p.(Ser807*)	-	nonsense	RB1_01950	unknown
g.162300C>T	c.2422C>T	Substitution	23_ex	-	p.Pro808Ser	-	missense	RB1_02013	somatic
g.162300_162318del	c.2422_2440del	deletion	23_ex	-	p.(Pro808Lysfs*12)	-	frameshift	RB1_01306	unknown
g.162303del	c.2425del	deletion	23_ex	-	p.(Leu809*)	-	nonsense	RB1_00179	unknown
g.162304_162305insT	c.2426_2427insT	Insertion	23_ex	-	-	-	frameshift	RB1_01657	germline
g.162306A>T	c.2428A>T (Reported 2 times)	Substitution	23_ex	-	p.Lys810X	-	unknown	RB1_01766	somatic
g.162313delC	c.2435delC	Deletion	23_ex	-	p.(Pro812Hisfs*14)	-	frameshift	RB1_01906	unknown
-	c.2439dup	Duplication	23_ex	-	p.(Lys814*)	-	frameshift	RB1_01996	germline
g.162317T>G	c.2439T>G	substitution	23_ex	-	p.Tyr813X	-	-	RB1_00967	-
g.162316_162317dup	c.2439_2440dup	insertion	23_ex	-	p.Lys814Ilefs*13	-	frameshift	RB1_00180	unknown
g.162325C>A	c.2447C>A	Substitution	23_ex	-	p.Ser816X	-	unknown	RB1_01659	germline
g.162325C>G	c.2447C>G (Reported 3 times)	substitution	23_ex	-	p.Ser816X	-	nonsense	RB1_00181	-
g.162327G>T	c.2449G>T (Reported 2 times)	substitution	23_ex	-	p.Glu817X	-	nonsense	RB1_00588	-
g.162329del	c.2451del	deletion	23_ex	-	-	-	frameshift	RB1_00471	germline
-	c.2455C>G	Substitution	23_ex	-	p.(Leu819Val)	-	missense	RB1_02045	unknown
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	-
g.162343delC	c.2465delC	Deletion	23_ex	-	-	-	unknown	RB1_01660	germline
-	c.2465dup	Duplication	23_ex	-	p.Thr823Asnfs*15	-	frameshift	RB1_01997	germline
g.162345del	c.2467del	Deletion	23_ex	-	p.(Thr823Glnfs*3)	-	frameshift	RB1_02094	germline
g.162348A>T	c.2470A>T	substitution	23_ex	-	p.Lys824X	-	nonsense	RB1_01365	-
g.162278insA	c.2473-74insA	Insertion	23_in	-	-	-	unknown	RB1_01756	somatic
g.162351delA	c.2473delA	Deletion	23_ex	-	p.(Met825*)	-	unknown	RB1_01951	unknown
g.162354_162372del19	c.2476_2489+5del19	Deletion	23_ex	splice_donor del	-	-	splice	RB1_01907	unknown
g.162356_162357del	c.2478_2479del	deletion	23_ex	-	-	-	frameshift	RB1_00938	-
g.162356_162362del	c.2478_2484del	deletion	23_ex	-	-	-	frameshift	RB1_00905	-
g.162356_162364del	c.2478_2486del	Deletion	23_ex	-	-	-	frameshift	RB1_01758	somatic
g.162358del	c.2480del	deletion	23_ex	-	p.Pro827Glnfs*6	-	frameshift	RB1_00511	unknown
g.162364C>A	c.2486C>A	Substitution	23_ex	-	p.Ser829X	-	unknown	RB1_01516	somatic
g.162364_162367dupCAAG	c.2486_2489dupCAAG	Substitution	23_ex	-	-	-	frameshift	RB1_01691	somatic
g.162367G>C	c.2489G>C	Substitution	23_ex	splice	p.Arg830Thr	-	unknown	RB1_01661	germline
g.162367G>T	c.2489G>T	Substitution	23_ex	-	p.(Arg830Ile)/splice mutation	-	splice	RB1_02055	germline
g.162368G>A	c.2489+1G>A	Substitution	23_in	-	-	-	splice	RB1_01541	germline
g.162368G>C	c.2489+1G>C (Reported 4 times)	substitution	23_in	altered splicing	-	-	splice	RB1_00308	-
g.162368G>T	c.2489+1G>T (Reported 4 times)	substitution	23_in	altered splicing	-	-	splice	RB1_00386	-
g.162369T>A	c.2489+2T>A	Substitution	23_in	-	-	-	splice	RB1_01870	germline
g.162369T>C	c.2489+2T>C	Substitution	in_23	-	-	-	splice	RB1_01407	-
g.162372G>A	c.2489+5G>A	substitution	23_in	skip	skip	-	splice	RB1_00248	germline
g.168974A>G	c.2490-1398A>G (Reported 2 times)	substitution	23_in	altered splicing	-	-	splice	RB1_00925	-
g.170278T>A	c.2490-94T>A	substitution	23_in	-	variant	-	variant	RB1_01126	-
g.170293A>G	c.2490-79A>G	substitution	23_in	-	variant	-	variant	RB1_01127	-
g.170327A>G	c.2490-45A>G (Reported 2 times)	substitution	23_in	-	variant	-	variant	RB1_01061	-
g.170329A>G	c.2490-43A>G	substitution	23_in	-	variant	-	variant	RB1_01084	-
g.170332G>T	c.2490-40G>T	substitution	23_in	-	-	-	unclear	RB1_00473	germline
g.170346A>C	c.2490-26A>C	substitution	23_in	altered splicing	-	-	splice	RB1_01269	-
g.170346A>G	c.2490-26A>G	substitution	23_in	altered splicing	-	-	splice	RB1_01270	-
g.170346A>T	c.2490-26A>T (Reported 3 times)	substitution	23_in	-	-	-	unclear	RB1_00366	-
g.170364C>G	c.2490-8C>G	substitution	23_in	altered splicing	-	-	splice	RB1_00589	-
g.170365T>A	c.2490-7T>A	Substitution	23_in	splice	-	-	splice	RB1_01693	germline
g.170365T>G	c.2490-7T>G (Reported 3 times)	substitution	23_in	skip e24	skip e24	-	splice	RB1_00331	-
170366T>A	c.2490-6T>A (Reported 2 times)	substitution	23_in	RT-PCR	intron inclusion	-	splice	RB1_01160	-
g.170369C>A	c.2490-3C>A (Reported 3 times)	substitution	23_in	altered splicing	-	-	splice	RB1_01154	-
-	c.2490-2A>G	Substitution	23_in	-	-	-	splice	RB1_01999	germline
-	c.2490-2_2490-1del	Deletion	23_in	-	-	-	splice	RB1_01998	germline
g.170371G>A	c.2490-1G>A	Substitution	23_in	splice_acceptor	-	-	splice	RB1_01908	unknown
g.170371G>C	c.2490-1G>C	Substitution	23_in	Essential splice site	-	-	unknown	RB1_01489	somatic
g.170371_170372del	c.2490-1_2490del (Reported 2 times)	deletion	23_in	altered splicing	-	-	splice	RB1_00477	germline
g.170371_170402del	c.2490_2520del	Substitution	24_in	-	p.Ile831Leufs*8	-	unknown	RB1_01804	somatic
g.170371_174438del	c.2490_2713del	Deletion	24_ex	r.2490_2713del	p.(Arg830Serfs*14)	-	in-frame	RB1_01469	unknown
g.170374_170377del	c.2492_2495del	deletion	24_ex	-	-	-	frameshift	RB1_01238	-
g.170377delT	c.2495delT	Substitution	24_ex	-	p.Leu832X	-	frameshift	RB1_01803	somatic
-	c.2496_2497del	Deletion	24_ex	-	p.Leu832Phefs*5	-	frameshift	RB1_02000	somatic
g.170379del	c.2497del	deletion	24_ex	-	p.Val833Tyrfs*16	-	frameshift	RB1_00001	unknown
g.170380dup	c.2498dup	insertion	24_ex	-	p.Ser834Ilsefs*4	-	frameshift	RB1_00512	unknown
g.170380_170380insT	c.2498_2499insT	Substitution	24_ex	-	-	-	frameshift	RB1_01767	somatic
c.170382_170383insT	c.2500_2501insT	Insertion	24_ex	-	-	-	nonsense	RB1_01692	germline
-	c.2501C>A	Substitution	24_ex	-	p.(Ser834*)	-	nonsense	RB1_02038	unknown
g.170383C>G	c.2501C>G (Reported 2 times)	substitution	24_ex	-	p.Ser834X	-	nonsense	RB1_00483	-
g.170383C>T	c.2501C>T	substitution	24_ex	-	p.Ser834X	-	nonsense	RB1_00607	-
g.170384delinsTGTCAATG	c.2502delinsTGTCAATG	complex	24_ex	-	p.Ile835Valfs*5	-	frameshift	RB1_00182	unknown
g.170391G>T	c.2509G>T	Substitution	24_ex	-	p.Glu837X	-	nonsense	RB1_01768	somatic
g.170395C>G	c.2513C>G (Reported 2 times)	substitution	24_ex	-	p.Ser834X	-	nonsense	RB1_00183	-
g.170397del10	c.2515del10	Deletion	24_ex	-	-	-	frameshift	RB1_01720	somatic
g.170398del	c.2516del	deletion	24_ex	-	p.Phe839Serfs*10	-	frameshift	RB1_00184	unknown
g.170399C>T	c.2517C>T	Substitution	24_ex	-	-	-	unknown	RB1_01824	somatic
g.170402del	c.2520del	Deletion	24_ex	-	p.Thr841Leufs*8	-	frameshift	RB1_01805	somatic
g.170403del	c.2520+1del (Reported 3 times)	deletion	24_in	altered splicing	-	-	splice	RB1_00221	-

1601 - 1700
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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)