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.156840_156843del	c.2106+2_2106+5del	deletion	20_in	altered splicing	-	-	splice	RB1_00509	-
g.15689insTTCT	c.2106+53_2106+54insTTCT	insertion	20_in	-	variant	-	variant	RB1_01117	-
g.156893insT	c.2106+55_2106+56insT	insertion	20_in	-	variant	-	variant	RB1_01118	-
g.156957insCTT	c.2106+119_2106+120insCTT	insertion	20_in	-	variant	-	variant	RB1_01119	-
g.156967insT	c.2106+129_2106+130insT	insertion	20_in	-	variant	-	variant	RB1_01120	-
g.156974C>T	c.2106+136C>T	substitution	20_in	-	variant	-	variant	RB1_01121	-
g.156984insCTTTTT	c.2106+146_2106+147insCTTTTT	insertion	20_in	-	variant	-	variant	RB1_01122	-
g.157023A>G	2106+185A>G	substitution	20_in	-	variant	-	variant	RB1_01123	-
g.160714T>G	c.2107-16T>G	substitution	20_in	altered splicing	-	-	splice new acceptor	RB1_00913	-
g.160727T>G	c.2107-3T>G	substitution	20_in	altered splicing	-	-	splice	RB1_00730	germline
g.160728A>G	c.2107-2A>G (Reported 4 times)	substitution	20_in	altered splicing	-	-	splice	RB1_00009	-
g.160729G>A	c.2107-1G>A (Reported 3 times)	substitution	20_in	altered splicing	-	-	splice	RB1_00424	-
g.160729G>C	c.2107-1G>C	Substitution	20_in	splice_acceptor	-	-	splice	RB1_01900	unknown
g.160663_160748delinsC	c.2107_2192delinsC	Insertion/Deletion	20_in	-	p.(Ile703Leufs*13)	-	frameshift	RB1_02085	germline
g.160712_160790del	c.2107-18_2167del	Deletion	21_ex	-	-	-	unknown	RB1_01689	germline
g.160730_160833del	c.2107_2211del (Reported 2 times)	Deletion	21_ex	-	p.Ile703_Glu737del	-	unknown	RB1_01849	somatic
g.160731T>C	c.2108T>C	substitution	21_ex	-	p.Ile703Thr	-	missense	RB1_00843	-
g.160732t>T	c.2109t>T	substitution	21_ex	-	-	-	-	RB1_00901	-
g.160733A>G	c.2110A>G	substitution	21_ex	-	p.Met704Val	-	-	RB1_01374	-
g.160733_160734del	c.2110_2111del	deletion	21_ex	-	-	-	frameshift	RB1_00466	somatic
g.160734T>G	c.2111T>G (Reported 2 times)	substitution	21_ex	-	p.Met704Arg	-	missense	RB1_00406	-
g.160736del	c.2113del	deletion	21_ex	-	p.Met705Cysfs*10	-	frameshift	RB1_00558	unknown
-	c.2113_2115delATG	Deletion	21	-	p.Met705del	Met705del	in-frame	RB1_01430	-
g.160739_160741dup	c.2116_2118dup (Reported 2 times)	insertion	21_ex	-	p.Cys706dup	-	in-frame	RB1_00344	-
g.160739_160751del	c.2116_2128del	Deletion	21_ex	-	p.(Cys706Alafs*5)	-	frameshift	RB1_02086	germline
g.160739_160751del13	c.2116_2128del13	Deletion	21_ex	-	p.(Cys706Alafs*5)	-	frameshift	RB1_01901	unknown
g.160740G>A	c.2117G>A (Reported 2 times)	substitution	21_ex	-	p.Cys706Tyr	-	missense	RB1_00159	-
g.160740G>T	c.2117G>T (Reported 2 times)	substitution	21_ex	-	p.Cys706Phe	-	-	RB1_01272	-
g.160741T>A	c.2118T>A	substitution	21_ex	-	p.Cys706X	-	nonsense	RB1_01364	-
g.160741_160753del	c.2118_2130del	deletion	21_ex	-	-	-	frameshift	RB1_00844	-
g.160742delT	c.2119delT	Deletion	21_ex	-	-	-	frameshift	RB1_01646	germline
g.160742T>C	c.2119T>C	Substitution	21_ex	-	p.Ser707Pro	Ser707Pro	missense	RB1_01432	germline
g.160746T>A	c.2123T>A	substitution	21_ex	-	p.Met708Lys	-	missense	RB1_00975	-
g.160746T>G	c.2123T>G	Substitution	21_ex	-	p.Met708Arg	-	unknown	RB1_01647	germline
g.160748_160751delins11	c.2125_2128delins11	Other/Complex	21_ex	-	-	-	frameshift	RB1_01933	unknown
g.160749_160760delins6	c.2126_2137delins6	complex	21_ex	-	-	-	frameshift	RB1_00557	-
g.160750T>G	c.2127T>G (Reported 3 times)	substitution	21_ex	-	p.Tyr709X	-	nonsense	RB1_00454	-
g.160756_160803del	c.2133_2180del	Substitution	21_ex	-	p.Cys712_Ala727del	-	nonsense	RB1_01812	somatic
g.160757T>C	c.2134T>C (Reported 9 times)	substitution	21_ex	-	p.Cys712Arg	-	missense	RB1_00160	-
g.160762del	c.2139del	deletion	21_ex	-	p.(Val714*)	-	frameshift	RB1_00508	unknown
g.160762dupA	c.2139dupA	Duplication	21_ex	-	-	-	frameshift	RB1_01648	germline
g.160766A>T	c.2143A>T (Reported 4 times)	substitution	21_ex	-	p.Lys715X	-	nonsense	RB1_00161	-
g.160771dup	c.2148dup	insertion	21_ex	-	p.Ile717Tyrfs*4	-	frameshift	RB1_00162	unknown
g.160775G>A	c.2152G>A	substitution	21_ex	-	p.Asp718Asn	-	missense	RB1_00522	-
g.160777ins5	c.2154_2155ins5	insertion	21_ex	-	-	-	-	RB1_00896	-
g.160781A>T	c.2158A>T	substitution	21_ex	-	p.Lys720X	-	nonsense	RB1_00163	-
g.160783_160784insT	c.2162dup	Insertion	21_ex	-	p.Lys722Glnfs*29	-	frameshift	RB1_01798	somatic
g.160785_160803delins7	c.2162_2180delins7	Other/Complex	21_ex	-	-	-	nonsense	RB1_01945	unknown
g.160787A>T	c.2164A>T	substitution	21_ex	-	p.Lys722X	-	nonsense	RB1_00681	-
g.160790dup	c.2167dup	Duplication	21_ex	-	p.(Ile723Asnfs*28)	-	nonsense	RB1_02053	somatic
g.160791del	c.2168del	deletion	21_ex	-	p.Ile723Thrfs*3	-	frameshift	RB1_01235	unknown
g.160792_160813del	c.2169_2190del	deletion	21_ex	-	-	-	frameshift	RB1_00591	-
-	c.2169_2444del	Deletion	21-23	r.2169_2444del	p.Ile724_Ile815del	-	in-frame	RB1_01472	germline
g.160793del22	c.2170	Insertion/Deletion	21_ex	-	-	-	frameshift	RB1_01503	germline
g.160795_160805del	c.2172_2182del	Deletion	21_ex	-	p.(Val725Glnfs*22)	-	frameshift	RB1_02087	unknown
g.160797del	c.2174del	deletion	21_ex	-	-	-	frameshift	RB1_01236	-
g.160798_160813del16	c.2175_2190del16	Deletion	21_ex	-	-	-	frameshift	RB1_01734	somatic
g.160799del	c.2176del (Reported 2 times)	deletion	21_ex	-	p.Thr726Glnfs*18	-	frameshift	RB1_00164	unknown
g.160806A>G	c.2183A>G	Substitution	21_ex	-	p.Tyr728Cys	-	unknown	RB1_01813	somatic
g.160807C>A	c.2184C>A	substitution	21_ex	-	p.Tyr728X	-	nonsense	RB1_00165	-
-	c.2184C>G	Substitution	21	-	p.(Tyr728*)	-	nonsense	RB1_02099	germline
g.160814delC	c.2191del	Substitution	21_ex	-	p.Leu731Phefs*13	-	missense	RB1_01779	germline
g.160815_160816del	c.2193_2194del (Reported 2 times)	deletion	21_ex	-	p.Leu732Serfs*18	-	frameshift	RB1_00576	unknown
g.160817_160820del	c.2194_2197del	deletion	21_ex	-	-	-	frameshift	RB1_00848	-
g.160819del	c.2196del	deletion	21_ex	-	p.His733Metfs*11	-	frameshift	RB1_00166	unknown
g.160821A>G	c.2198A>G (Reported 2 times)	substitution	21_ex	-	p.His733Arg	-	missense	RB1_00474	-
g.160823dup	c.2200dup	insertion	21_ex	-	p.Ala734Glyfs*17	-	frameshift	RB1_00167	unknown
g.160829C>T	c.2206C>T	Substitution	21_ex	-	p.Gln736*	-	nonsense	RB1_01762	somatic
g.160830ins4	c.2207_2208ins4	insertion	21_ex	-	-	-	-	RB1_00892	-
g.160829C>T	c.2208C>T (Reported 3 times)	Substitution	21	-	-	-	nonsense	RB1_01535	germline
g.160832del	c.2209del (Reported 3 times)	deletion	21_ex	-	p.Glu737Argfs*7	-	frameshift	RB1_00746	unknown
g.160832G>T	c.2209G>T	substitution	21_ex	-	p.Glu737X	-	nonsense	RB1_00370	somatic
g.160833	c.2211delA (Reported 2 times)	Deletion	21	-	p.E737fsX747	-	frameshift	RB1_01441	-
g.160834G>A	c.2211G>A (Reported 2 times)	substitution	21_ex	skip exon 21	skip exon 21	-	splice	RB1_00021	-
g.160834G>C	c.2211G>C (Reported 3 times)	substitution	21_ex	skip exon 21	skip exon 21	-	splice	RB1_00948	-
g.160835G>A	c.2211+1G>A	substitution	21_in	altered splicing	-	-	splice	RB1_00510	-
g.160835G>C	c.2211+1G>C (Reported 3 times)	substitution	21_in	skip exon 21	skip exon 21	-	splice	RB1_00316	-
g.160835G>T	c.2211+1G>T (Reported 7 times)	substitution	21_in	skip exon 21	skip exon 21	-	splice	RB1_00233	-
g.160836dup	c.2211+2dup	Duplication	21_in	altered splicing	-	-	unknown	RB1_02011	germline
g.160836T>C	c.2211+2T>C	substitution	21_in	-	Lossof splice donor site	-	splice	RB1_00765	-
g.160839del	c.2211+5del	deletion	21_in	altered splicing	-	-	splice	RB1_01338	-
g.160839G>A	c.2211+5G>A (Reported 3 times)	substitution	21_in	altered splicing	-	-	splice	RB1_00219	-
-	c.2211+5G>C	Substitution	21_in	-	-	-	splice	RB1_01991	germline
g.160839G>T	c.2211+5G>T	substitution	21_in	altered splicing	-	-	splice	RB1_00375	germline
g.161966del	c.2212-31del	deletion	21_in	-	variant	-	variant	RB1_01124	-
g.161970_161981del	c.2212-27_2212-16del	Deletion	21_in	-	-	-	unknown	RB1_01843	somatic
g.161973_161981del	c.2212-24_2212-16del	deletion	21_in	-	-	-	-	RB1_01332	-
g.161981dupT	c.2212-16dupT	Duplication	21_in	-	-	-	unknown	RB1_01842	somatic
g.161981insT	c.2212-16_2212-15insT	insertion	21_in	-	variant	-	variant	RB1_01125	-
g.161983C>G	c.2212-14C>G	Substitution	21_in	splice	-	-	splice	RB1_01649	germline
g.161983C>T	c.2212-14C>T	Substitution	21_in	-	-	-	unknown	RB1_01844	somatic
g.161984T>A	c.2212-13T>A (Reported 2 times)	substitution	21_in	altered splicing	-	-	splice	RB1_00714	-
g.161986T>A	c.2212-11T>A	substitution	21_in	-	variant	-	variant	RB1_01059	-
g.161992-g.161998	c.2212-5_2213del	Deletion	21_in	-	Essential splice site, Coding unknown, Intronic, Splice site	-	splice	RB1_01491	somatic
g.161995A>G	c.2212-2A>G (Reported 4 times)	substitution	21_in	altered splicing	-	-	splice	RB1_00354	-
g.161996G>A	c.2212-1G>A (Reported 3 times)	substitution	21_in	altered splicing	-	-	splice	RB1_00218	-
g.161996G>C	c.2212-1G>C	substitution	21_in	altered splicing	-	-	splice	RB1_00390	somatic
g.161996G>T	c.2212-1G>T (Reported 2 times)	Substitution	21_in	-	-	-	splice	RB1_01415	-
g.161994_161995del	c.2212-1_2212-2del	Deletion	21_in	altered splicing	-	-	splice	RB1_01794	somatic
g.161995_162110del	c.2212_2325del	Deletion	22_ex	-	p.Thr738_Arg775del	-	unknown	RB1_01850	somatic

1401 - 1500
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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)