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

About this overview [Show]

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.161999dup	c.2214dup	insertion	22_ex	-	-	-	-	RB1_00851	-
g.162001t>	c.2216t>	substitution	22_ex	-	-	-	-	RB1_00850	-
g.162001_162002insT	c.2216_2217insT	Insertion	22_ex	-	-	-	frameshift	RB1_01650	germline
g.162004delA	c.2220delA	Deletion	22_ex	-	-	-	frameshift	RB1_01651	germline
g.162004_162012dup	c.2220_2227dup	Duplication	22_ex	-	-	-	unknown	RB1_01690	germline
g.162009_16210del	c.2227_2228del	deletion	22_ex	-	p.Leu743Aspfs*7	-	frameshift	RB1_00556	unknown
g.162012ins4	c.2227_2228ins4	insertion	22_ex	-	-	-	frameshift	RB1_00571	-
g.162013del	c.2228del	deletion	22_ex	-	p.(Leu743*)	-	frameshift	RB1_00984	somatic
g.162013T>A	c.2228T>A	substitution	22_ex	-	p.Leu743X	-	nonsense	RB1_00980	-
g.162016T>C	c.2231T>C	Substitution	22_ex	-	p.Ile744Thr	-	missense	RB1_02016	somatic
g.162021G>T	c.2236G>T (Reported 4 times)	substitution	22_ex	-	p.Glu746X	-	nonsense	RB1_00378	-
g.162021_162027dup	c.2236_2242dup	Insertion	22_ex	-	p.(Glu748Glyfs*5)	-	frameshift	RB1_02088	germline
g.162022A>G	c.2237A>G	substitution	22_ex	-	p.Glu746Gly	-	variant	RB1_01060	-
g.162022_162025del	c.2237_2240del	Deletion	22_ex	-	-	-	frameshift	RB1_01653	germline
g.162022_162026del	c.2237_2241del (Reported 3 times)	deletion	22_ex	-	p.Glu746Glyfs*3	-	frameshift	RB1_00436	germline
g.162022_162026dup	c.2237_2241dup	Duplication	22_ex	-	p. Glu748Lysfs*8	-	frameshift	RB1_01763	germline
g.162023dup	c.2238dup	Insertion	22_ex	-	p.(Glu747Argfs*4)	-	frameshift	RB1_02089	germline
-	c.2239dup	Duplication	22_ex	-	p.Glu747Glyfs*4	-	frameshift	RB1_01992	germline
g.162024_162027dup	c.2239_2242dup	Insertion	22_ex	-	p.(Glu748Glyfs*4)	-	frameshift	RB1_02090	germline
-	c.2240_2241del	Deletion	22_ex	-	p.Glu747Glyfs*3	-	frameshift	RB1_01993	somatic
g.162027del	c.2242del	deletion	22_ex	-	p.Glu748Serfs*6	-	frameshift	RB1_00267	germline
g.162027G>T	c.2242G>T (Reported 8 times)	substitution	22_ex	-	p.Glu748X	-	nonsense	RB1_00010	-
g.162027_162030delGAGT	c.2242_2245delGAGT	Deletion	22_ex	-	-	-	frameshift	RB1_01765	somatic
g.162028_162029dup	c.2243_2244dup	insertion	22_ex	-	p.Tyr749Serfs*6	-	frameshift	RB1_00369	germline
g.162029del	c.2244del	deletion	22_ex	-	p.Glu748Aspfs*6	-	frameshift	RB1_00006	unknown
g.162029insATAGAATC	c.2244_2245insATAGAATC	insertion	22_ex	-	p.Tyr749Ilefs*8	-	frameshift	RB1_00168	unknown
g.162032T>A	c.2247T>A	Substitution	22_ex	-	p.(Tyr749*)	-	nonsense	RB1_01946	unknown
g.162032T>G	c.2247T>G	Substitution	22_ex	-	p.Tyr749X	-	nonsense	RB1_01755	somatic
g.162033dup	c.2248dup	insertion	22_ex	-	p.Asp750Glyfs*8	-	frameshift	RB1_00606	unknown
g.162037_162041del	c.2252_2256del	Deletion	22_ex	-	p.(Ser751Tyrfs*5)	-	frameshift	RB1_01959	somatic
g.162038del	c.2253del	deletion	22_ex	-	p.Ile752Leufs*2	-	frameshift	RB1_00555	unknown
g.162046T>G	c.2261T>G (Reported 2 times)	Substitution	22_ex	-	p.Val754Gly	-	unknown	RB1_01814	somatic
g.162048T>A	c.2263T>A	substitution	22_ex	-	p.Phe755Ile	-	missense	RB1_00348	somatic
g.162048T>G	c.2263T>G (Reported 2 times)	substitution	22_ex	-	p.Phe755Val	-	missense	RB1_00949	-
g.162049ins11	c.2264_2265ins11	insertion	22_ex	-	-	-	-	RB1_00853	-
g.162049_162051del	c.2264_2266del	deletion	22_ex	-	p.Ser751del	-	in-frame	RB1_00169	-
g.162035	c.2266delT	Deletion	22	-	p.S755Lfs*3	-	frameshift	RB1_02117	germline
g.162053T>A	c.2268T>A (Reported 2 times)	Substitution	22_ex	-	p.Tyr756X	-	nonsense	RB1_01515	somatic
g.162057T>C	c.2272T>C	substitution	22_ex	-	p.Ser758Pro	-	-	RB1_01241	-
g.162058C>A	c.2273C>A	substitution	22_ex	-	p.Ser758X	-	nonsense	RB1_00338	-
g.162068delG	c.2283del	Substitution	22_ex	-	p.Met761Ilefs*4	-	frameshift	RB1_01799	somatic
g.162069C>T	c.2284C>T	substitution	22_ex	-	p.Gln762*	-	nonsense	RB1_01198	somatic
g.162073_16074del	c.2288_2289del (Reported 2 times)	deletion	22_ex	-	p.Arg763Thrfs*31	-	frameshift	RB1_00252	unknown
g.162078A>T	c.2293A>T	Substitution	22_ex	-	p.Lys765X	-	nonsense	RB1_01656	germline
g.162081del	c.2296del (Reported 5 times)	deletion	22_ex	-	p.Thr766Glnfs*44	-	frameshift	RB1_01237	unknown
g.162091T>A	c.2306T>A	substitution	22_ex	-	p.Leu769X	-	nonsense	RB1_00682	-
g.162092_162093delinsTT	c.2307_2308delinsTT	complex	22_ex	-	p.Leu769PhefsX1	-	nonsense	RB1_00170	-
g.162092_162093delinsTTTT	c.2307_2308delinsTTTT	Insertion/Deletion	22_ex	-	p.Leu769Phefs*42	-	frameshift	RB1_01386	unknown
g.162093C>T	c.2308C>T (Reported 4 times)	substitution	22_ex	-	p.Gln770X	-	nonsense	RB1_00328	-
g.162095delG	c.2310delG	Deletion	22_ex	-	-	-	frameshift	RB1_01652	germline
g.162096dup	c.2311dup (Reported 2 times)	insertion	22_ex	-	p.Tyr771Leufs*24	-	frameshift	RB1_00171	unknown
g.162097delA	c.2312delA	Deletion	22_ex	-	-	-	frameshift	RB1_01654	germline
-	c.2313del	Deletion	22_ex	-	p.Tyr771*	-	frameshift	RB1_01994	germline
g.162102delT	c.2317delT	Deletion	22_ex	-	p.(Ser773Profs*37)	-	frameshift	RB1_01902	unknown
g.162112T>C	c.2325T>C	Substitution	in_22	-	-	-	splice	RB1_01956	germline
g.162111del	c.2325+1del	deletion	22_in	altered splicing	-	-	splice	RB1_00279	germline
g.162111G>A	c.2325+1G>A (Reported 2 times)	substitution	22_in	skip exon 21	skip exon 21	-	splice	RB1_00330	-
g.162111G>T	c.2325+1G>T	Substitution	22_in	splice	-	-	splice	RB1_01655	germline
g.162112del	c.2325+2del (Reported 2 times)	deletion	22_in	altered splicing	-	-	splice	RB1_00587	-
g.162112T>G	c.2325+2T>G	Substitution	22_in	splice_donor	-	-	splice	RB1_01903	unknown
g.162115G>A	c.2325+5G>A	Substitution	22_in	splice_donor	-	-	splice	RB1_01904	unknown
g.162115G>C	c.2325+5G>C	substitution	22_in	altered splicing	-	-	splice	RB1_01367	-
g.162115G>T	c.2325+5G>T	substitution	22_in	altered splicing	-	-	splice	RB1_00914	-
g.162124A>G	c.2326-79A>G pol	Substitution	22_in	-	-	-	unknown	RB1_01771	somatic
g.162159A>G	c.2326-45A>G	Substitution	22_in	-	-	-	unknown	RB1_01783	unknown
g.162177T>C	c.2326-27T>C	Substitution	22_in	-	-	-	unknown	RB1_01786	somatic
g.162190T>C	c.2326-14T>C	substitution	22_in	altered splicing	-	-	splice	RB1_00590	-
g.162192T>C	c.2326-12T>C	Substitution	22_in	altered splicing	-	-	splice	RB1_01663	germline
g.162196T>A	c.2326-8T>A	substitution	22_in	altered splicing	-	-	splice	RB1_01267	-
g.162201T>G	c.2326-3T>G	substitution	22_in	altered splicing	-	-	splice	RB1_00710	-
g.162202A>C	c.2326-2A>C	Substitution	22_in	altered splicing	-	-	unknown	RB1_01488	somatic
g.162202A>G	c.2326-2A>G	substitution	22_in	altered splicing	-	-	splice	RB1_01268	-
g.162203del	c.2326-1del (Reported 2 times)	deletion	22_in	altered splicing	-	-	splice	RB1_00749	-
g.162203G>A	c.2326-1G>A	substitution	22_in	altered splicing	-	-	splice	RB1_00924	-
g.162203G>T	c.2326-1G>T (Reported 3 times)	substitution	22_in	altered splicing	-	-	splice	RB1_00337	-
g.162159A>C	c.2326+49A>C	substitution	22_in	-	variant	-	variant	RB1_01068	-
g.162224delA	c.2346del	Substitution	22_ex	-	p.Pro783LeufsX27	-	unknown	RB1_01797	somatic
g.162205_162207delinsTT	c.2327_2329delinsTT	complex	23_ex	-	p.Pro776Leufs*34	-	frameshift	RB1_00304	somatic
g.162207_162208del	c.2329_2330del	Deletion	23_ex	-	p.(Pro777Tyrfs*17)	-	frameshift	RB1_02091	germline
g.162208del	c.2330del (Reported 5 times)	deletion	23_ex	-	p.Pro777Leufs*33	-	frameshift	RB1_00172	unknown
g.162208dupC	c.2330dupC	Duplication	23_ex	-	-	-	frameshift	RB1_01760	somatic
g.162208_162209del	c.2330_2331del	Deletion	23_ex	-	-	-	frameshift	RB1_01795	somatic
g.162209del	c.2331del	deletion	23_ex	-	p.Thr778Profs*32	-	frameshift	RB1_01286	unknown
g.162214T>A	c.2336T>A	Substitution	23_ex	-	p.(Leu779*)	-	nonsense	RB1_01947	unknown
g.162208_162209insT	c.2336_2337insT	Insertion	23_ex	-	-	-	frameshift	RB1_01764	somatic
g.162217C>G	c.2339C>G (Reported 2 times)	Substitution	23_ex	-	p.Ser780X	-	unknown	RB1_01761	somatic
g.162220delC	c.2342delC	Deletion	23_ex	-	-	-	frameshift	RB1_01759	somatic
g.162225_162231del	c.2347_2353del	deletion	23_ex	-	p.Pro783Phefs*25	-	frameshift	RB1_00173	unknown
g.162237C>T	c.2359C>T (Reported 68 times)	substitution	23_ex	-	p.Arg787X	-	nonsense	RB1_00005	-
g.162238G>A	c.2360G>A	substitution	23_ex	-	p.Arg787Gln	-	-	RB1_01316	-
g.162241G>C	c.2363G>C	substitution	23_ex	-	p.Ser788Thr	-	missense	RB1_00174	-
g.162241_162262dup	c.2363_2384dup	insertion	23_ex	-	-	-	frameshift	RB1_00434	-
g.162243_162244del	c.2365_2366del	Deletion	23_ex	-	p.(Pro789Leufs*5)	-	frameshift	RB1_02092	germline
g.162244delC	c.2366delC	Deletion	23_ex	-	-	-	unknown	RB1_01705	somatic
g.162246delT	c.2368delT	Deletion	23_ex	-	-	-	unknown	RB1_01773	somatic
g.162247_162248insT	c.2369_2370insT	Insertion	23_ex	-	p.Lys791Glnfs*4	-	unknown	RB1_01800	unknown
g.162248C>A	c.2370C>A (Reported 4 times)	substitution	23_ex	-	p.Tyr790X	-	nonsense	RB1_00282	-
g.162248C>G	c.2370C>G (Reported 4 times)	substitution	23_ex	-	p.Tyr790X	-	nonsense	RB1_00276	unknown
g.162248delC	c.2370delC	Deletion	23_ex	-	p.(Tyr790*)	-	nonsense	RB1_01948	unknown
g.162254del	c.2376del	deletion	23_ex	-	p.(Pro793Leufs*17)	-	frameshift	RB1_00175	unknown

1501 - 1600
[<<] [<-] ... 11 12 13 14 15 16 17 18 [->] [>>]

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)

Please help to improve the quality of the data and report any error that you may find!

rb1-lsdb

retinoblastoma 1 (RB1)