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.153218del	c.1825del (Reported 2 times)	deletion	19_ex	-	p.(Pro609Leufs*2)	-	frameshift	RB1_00758	unknown
g.153221_153222del	c.1828_1829del	deletion	19_ex	-	p.Val610Lysfs*42	-	frameshift	RB1_00136	unknown
g.153226del	c.1833del	deletion	19_ex	-	p.Arg611Serfs*12	-	frameshift	RB1_01229	unknown
g.153227T>C	c.1834T>C	Substitution	19_ex	-	p.Ser612Pro	-	missense	RB1_01405	-
g.153236A>T	c.1843A>T	substitution	19_ex	-	p.Lys615X	-	-	RB1_01379	-
g.153236del	c.1843del	deletion	19_ex	-	-	-	frameshift	RB1_00831	-
g.153241del	c.1848del	deletion	19_ex	-	p.Gly617Valfs*6	-	frameshift	RB1_00444	somatic
g.153241dup	c.1848dup	Duplication	19_ex	-	p.(Gly617Argfs*36)	-	frameshift	RB1_01640	germline
g.153243del	c.1850del (Reported 2 times)	deletion	19_ex	-	p.Gly617Valfs*6	-	frameshift	RB1_00240	unknown
g.153243_153246dup	c.1850_1853dupGTTC	Duplication	19_ex	-	-	-	frameshift	RB1_01688	germline
g.153244T>C	c.1851T>C	Substitution	19_ex	-	p.Gly617Gly	-	silent	RB1_01423	-
g.153246C>G	c.1853C>G (Reported 2 times)	Substitution	19_ex	-	S618X	-	unknown	RB1_01706	somatic
g.153248del	c.1855del	deletion	19_ex	-	p.Thr619Leufs*4	-	frameshift	RB1_00232	germline
g.153253G>A	c.1860G>A	substitution	19_ex	-	variant	-	variant	RB1_01055	-
g.153254C>A	c.1861C>A (Reported 2 times)	Substitution	19_ex	-	p.Arg621Ser	-	missense	RB1_01573	somatic
g.153254C>T	c.1861C>T	Substitution	19_ex	-	p.Arg621Cys	-	missense	RB1_01392	-
g.153252_153253del	c.1861_1862del (Reported 2 times)	deletion	19_ex	-	p.Arg621Cysfs*31	-	frameshift	RB1_00137	unknown
g.153266del	c.1873del	deletion	19_ex	-	p.Thr625Leufs*18	-	frameshift	RB1_00536	unknown
-	c.1876G>A	Substitution	19_ex	-	p.Ala626Thr	-	missense	RB1_01873	unknown
g.153270dup	c.1877dup	insertion	19_ex	-	-	-	frameshift	RB1_00832	-
g.153276insAG	c.1883insAG	Insertion	19_ex	-	-	-	frameshift	RB1_01744	somatic
g.153276_153277del	c.1883_1884del	deletion	19_ex	-	p.Ala628Glyfs*24	-	frameshift	RB1_00260	unknown
g.153277_153278del	c.1884_1885del	deletion	19_ex	-	-	-	frameshift	RB1_01230	-
g.153278G>T	c.1885G>T	substitution	19_ex	-	p.Glu629X	-	nonsense	RB1_00392	somatic
g.153279_153280dup	c.1886_1887dup	insertion	19_ex	-	-	-	-	RB1_00897	-
g.153280_153281del	c.1887_1888del (Reported 6 times)	deletion	19_ex	-	Glu629Aspfs*23	-	frameshift	RB1_00138	unknown
g.153284C>T	c.1891C>T (Reported 3 times)	substitution	19_ex	-	p.Gln631X	-	nonsense	RB1_00139	-
g.153284delC	c.1891delC	Deletion	19_ex	-	p.(Gln631Lysfs*12)	-	frameshift	RB1_01930	unknown
g.153285ins153253_153284	c.1892_1893ins1860_1891	insertion	19_ex	-	p.Ala632ArgfsX21	-	frameshift	RB1_00140	-
g.153288del	c.1895del	deletion	19_ex	-	p.Ala632Glufs*11	-	frameshift	RB1_00833	unknown
g.153292C>T	c.1899C>T	substitution	19_ex	-	-	-	-	RB1_00900	-
g.153294C>G	c.1901C>G	substitution	19_ex	-	p.Ser634X	-	nonsense	RB1_00141	-
g.153295dup	c.1902dup	Insertion	19_ex	-	Ala635Serfs*18	-	frameshift	RB1_01578	germline
g.153295insTC	c.1902_1903insTC	insertion	19_ex	-	p.Ala635Serfs*9	-	frameshift	RB1_00259	unknown
g.153296G>C	c.1903G>C	substitution	19_ex	-	p.Ala635Pro	-	missense	RB1_00142	-
g.153296_153305dup	c.1903_1912dup	Duplication	19_ex	-	p.Thr638Serfs*18	-	frameshift	RB1_01428	unknown
g.153302C>T	c.1909C>T (Reported 5 times)	substitution	19_ex	-	p.Gln637X	-	nonsense	RB1_00529	-
g.153305del	c.1912del	Deletion	19_ex	-	p.(Thr638Profs*5)	-	frameshift	RB1_02077	germline
g.153308C>T	c.1915C>T	substitution	19_ex	-	p.Gln639X	-	nonsense	RB1_00143	-
g.153322_153326delins22	c.1929_1934delins22	complex	19_ex	-	-	-	frameshift	RB1_00954	-
g.153328_153329del	c.1935_1936del	deletion	19_ex	-	-	-	frameshift	RB1_00895	-
g.153330del	c.1937del	deletion	19_ex	-	p.Ser646Phefs*12	-	frameshift	RB1_00144	unknown
g.153330_153333del	c.1937_1940del	Deletion	19_ex	-	p.(Ser646Phefs*11)	-	frameshift	RB1_01499	germline
g.153332_153333del	c.1939_1940del (Reported 5 times)	deletion	19_ex	-	p.Leu647Phefs*5	-	frameshift	RB1_00145	unknown
g.153333_153336del4	c.1940_1943del4	Deletion	19_ex	-	p.(Leu647Hisfs*10)	-	frameshift	RB1_01931	unknown
g.153334_153335del	c.1941_1942del	Deletion	19_ex	-	-	-	unknown	RB1_01641	germline
g.153335del	c.1942del	deletion	19_ex	-	p.Ser648Hisfs*10	-	frameshift	RB1_00262	unknown
g.153336C>A	c.1943C>A	Substitution	19_ex	-	p.Ser648*	-	nonsense	RB1_01865	germline
g.153336delC	c.1943del	Deletion	19_ex	-	p.Ser648Tyrfs*10	-	frameshift	RB1_02005	unknown
g.153336delC	c.1943delC	Deletion	19_ex	-	p.(Ser648Tyrfs*10)	-	frameshift	RB1_01424	unknown
g.153338_153342del	c.1945_1949del	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_00146	unknown
-	c.1947del	Substitution	19_ex	-	p.(Tyr651Ilefs*7)	-	frameshift	RB1_02040	unknown
g.153340_153344del	c.1947_1951del	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_01232	unknown
g.153341_153344del4	c.1948_1951del4	Deletion	19_ex	-	p.(Phe650Ilefs*7)	-	frameshift	RB1_01932	unknown
g.153342T>A	c.1949T>A	Substitution	19_ex	-	p.(Phe650Tyr)	-	missense	RB1_01856	somatic
g.153342T>C	c.1949T>C	substitution	19_ex	-	p.Phe650Ser	-	missense	RB1_00363	germline
g.153342_153350del	c.1949_1957del (Reported 2 times)	deletion	19_ex	-	p.(Phe650*)	-	frameshift	RB1_00016	unknown
g.153344delT	c.1951delT	Deletion	19_ex	-	-	-	frameshift	RB1_01639	germline
g.153346T>G	c.1953T>G	Substitution	19_ex	-	p.Tyr651X	-	nonsense	RB1_01508	germline
g.153347A>T	c.1954A>T (Reported 2 times)	Substitution	19_ex	-	p.K652X	-	nonsense	RB1_01439	germline
g.153347delA	c.1954del	Substitution	19_ex	-	p.Val654Cysfs*4	-	unknown	RB1_01564	somatic
g.153347A>T	c.1956A>T	Substitution	19	-	-	-	nonsense	RB1_01537	germline
g.153351_153353del	c.1958_1960del	deletion	19_ex	-	p.Lys653del/splice	-	in-frame	RB1_00612	-
g.153352del	c.1959del (Reported 2 times)	deletion	19_ex	-	p.Val654Lysfs*4	-	frameshift	RB1_00356	unknown
g.153352dup	c.1959dup (Reported 5 times)	insertion	19_ex	-	p.Val654Serfs*14	-	frameshift	RB1_00231	unknown
g.153352_153353insA	c.1959_1960insA	Insertion	19_ex	-	-	-	frameshift	RB1_01687	germline
g.153353G>T	c.1960 G>T	Substitution	19_ex	-	p.Val654Leu	-	unknown	RB1_01459	-
g.153353G>A	c.1960G>A	substitution	19_ex	-	p.Val654Met/splice	-	missense-splice	RB1_00764	-
g.153353G>C	c.1960G>C (Reported 7 times)	substitution	19_ex	altered splicing	-	-	splice	RB1_00315	-
g.153353G>T	c.1960G>T (Reported 3 times)	substitution	19_ex	altered splicing	-	-	splice	RB1_00402	-
g.153354del	c.1960+1del (Reported 10 times)	deletion	19_in	altered splicing	-	-	splice	RB1_00215	-
g.153354G>A	c.1960+1G>A (Reported 5 times)	substitution	19_in	altered splicing	-	-	splice	RB1_00216	-
g.153354G>T	c.1960+1G>T	Substitution	19_in	splice_donor	-	-	unknown	RB1_01898	unknown
g.153354_153359delins22bp	c.1960+1_1960+6delins22	Other/Complex	19_in	splice_donor	-	-	unknown	RB1_01897	unknown
g.153355T>C	c.1960+2T>C	substitution	19_in	altered splicing	-	-	splice	RB1_00002	-
-	c.1960+2T>G	Substitution	19_in	-	-	-	splice	RB1_01987	germline
g.153355insG	c.1960+2_1960+3insG	insertion	19_in	altered splicing	-	-	splice	RB1_00261	-
g.153358G>C	c.1960+5G>C (Reported 2 times)	substitution	19_in	altered splicing	-	-	splice	RB1_01265	-
g.156537T>C	c.1961-156T>C	substitution	19_in	-	variant	-	variant	RB1_01116	-
g.156616A>G	c.1961-77A>G (Reported 4 times)	substitution	19_in	-	variant	-	variant	RB1_01056	-
g.156677>G	c.1961-16T>G	Substitution	19_in	splice	-	-	splice	RB1_01645	germline
g.156690C>G	c.1961-3C>G	Substitution	19_in	splice_acceptor	-	-	splice	RB1_01899	unknown
g.156691A>G	c.1961-2A>G (Reported 3 times)	substitution	19_in	skip exon 19	skip exon 19	-	splice	RB1_00217	-
g.156690C>G	c.1961-1C>G	Substitution	19_in	-	-	-	frameshift	RB1_01852	germline
g.156692G>A	c.1961-1G>A (Reported 2 times)	Substitution	19_in	Essential splice site	-	-	unknown	RB1_01487	somatic
g.156692G>T	c.1961-1G>T	Substitution	19_in	Essential splice site	-	-	unknown	RB1_01486	somatic
g.156693T>A	c.1961T>A (Reported 2 times)	substitution	20_ex	-	p.Val654Glu	-	missense-splice	RB1_00147	-
g.156693_156735dup43	c.1961_2003dup43	Duplication	20_ex	-	p.(Leu669Valfs*13)	-	frameshift	RB1_01909	unknown
g.156691_156838del	c.1961_2106del	Deletion	20_ex	-	p.Val654Aspfs*18	-	unknown	RB1_01796	somatic
g.156694_156695insTATC	c.1962_1963insTATC	Insertion	20_ex	-	-	-	frameshift	RB1_01747	somatic
g.156695dup	c.1963dup	insertion	20_ex	-	p.Tyr655Leufs*13	-	frameshift	RB1_00263	unknown
g.156697T>A	c.1965T>A	substitution	20_ex	-	p.Tyr655X	-	nonsense	RB1_00836	-
g.156695_156697del	c.1965_1967del	deletion	20_ex	-	p.Tyr655del	-	in-frame	RB1_01311	-
g.156698C>T	c.1966C>T (Reported 3 times)	substitution	20_ex	-	p.Arg656Trp	-	missense	RB1_00403	-
g.156698insAT	c.1966_1967insAT	insertion	20_ex	-	p.Arg656Hisfs*3	-	frameshift	RB1_01313	unknown
g.156698_156699insTATC	c.1966_1967insTATC	Insertion	20_ex	-	-	-	frameshift	RB1_01737	somatic
g.156700del	c.1968del	deletion	20_ex	-	p.(Leu657*)	-	frameshift	RB1_00234	germline
g.156700dupG	c.1968dupG	Duplication	20_ex	-	p.(Leu657Alafs*11)	-	frameshift	RB1_01910	unknown
g.156700_156701del	c.1968_1969del	deletion	20_ex	-	p.Leu657Serfs*10	-	frameshift	RB1_01312	unknown
g.156701_156713delinsT	c.1969_1981delinsT	Other/Complex	20_ex	-	p.Leu657_Arg661delinsTrp	-	unknown	RB1_01778	germline

1201 - 1300
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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)