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.73869G>T	c.1332G>T	Substitution	13_ex	-	p.Gln444His	-	missense	RB1_01571	somatic
g.73870del	c.1332+1del (Reported 2 times)	deletion	13_in	altered splicing	-	-	splice	RB1_00299	-
g.73870G>A	c.1332+1G>A (Reported 9 times)	substitution	13_in	skip exon 13	skip exon 13	-	splice	RB1_00202	-
g.73870G>T	c.1332+1G>T	substitution	13_in	altered splicing	-	-	splice	RB1_00204	-
g.73871T>C	c.1332+2T>C (Reported 3 times)	substitution	13_in	altered splicing	-	-	splice	RB1_00203	-
g.73871T>G	c.1332+2T>G	Substitution	13_in	altered splicing	-	-	unknown	RB1_01483	somatic
g.73872A>C	c.1332+3A>C	Substitution	13_in	-	-	-	unknown	RB1_01622	germline
g.73937T>A	c.1332+68T>A	substitution	13_in	-	variant	-	variant	RB1_01041	-
g.76359insA	c.1333-71_1333-70insA	insertion	13_in	-	variant	-	variant	RB1_01107	-
g.76360insA	c.1333-70_1333-69insA	insertion	13_in	-	variant	-	variant	RB1_01108	-
g.76407-76417del11	c.1333-13_1333-23del11	Deletion	13_in	splice_acceptor del	-	-	splice	RB1_01887	unknown
g.76427delCAGinsTT	c.1333-3delCAGinsTT	Other/Complex	13_in	-	-	-	nonsense	RB1_01733	somatic
g.76428A>G	c.1333-2A>G (Reported 3 times)	substitution	13_in	altered splicing	-	-	splice	RB1_00227	-
g.76429G>A	c.1333-1G>A	substitution	13_in	altered splicing	-	-	splice	RB1_00514	-
g.76429_76439del	c.1333-1_1342del (Reported 2 times)	deletion	13_in	-	-	-	frameshift	RB1_00814	-
g.76360-76487del	c.1333-1389del	Deletion	14_ex	r.1333-1389del	exon skipping	-	in-frame	RB1_01470	unknown
g.76430C>T	c.1333C>T (Reported 79 times)	substitution	14_ex	-	p.Arg445X	-	nonsense	RB1_00003	-
g.76432A>C	c.1335A>C	substitution	14_ex	-	-	-	unclear	RB1_00813	-
g.76434insTA	c.1337insTA	Insertion	14	-	-	-	frameshift	RB1_02108	germline
g.76435C>A	c.1338C>A	substitution	14_ex	-	p.Tyr446X	-	nonsense	RB1_00305	somatic
g.76435C>G	c.1338C>G (Reported 2 times)	Substitution	14_ex	-	p.Tyr446X	-	nonsense	RB1_01782	somatic
g.76436A>C	c.1339A>C	substitution	14_ex	-	p.Lys447Gln	-	missense	RB1_00239	-
g.76436A>T	c.1339A>T	substitution	14_ex	-	p.Lys447X	-	-	RB1_01335	-
g.76438delA	c.1341delA	Deletion	14_ex	-	-	-	missense	RB1_01728	somatic
g.76439del	c.1342del	deletion	14_ex	-	p.(Gly449Glufs*8)	-	frameshift	RB1_00226	somatic
g.76441del	c.1344del	deletion	14_ex	-	-	-	frameshift	RB1_00431	unknown
g.76442G>A	c.1345G>A (Reported 2 times)	substitution	14_ex	-	p.Gly449Arg	-	missense	RB1_01177	-
g.76443del	c.1346del (Reported 4 times)	deletion	14_ex	-	p.Gly449Glufs*8	-	frameshift	RB1_00288	germline
g.76443G>A	c.1346G>A (Reported 3 times)	substitution	14_ex	-	p.Gly449Glu	-	missense	RB1_00396	-
g.76443G>T	c.1346G>T(G449V)	Substitution	14_ex	-	p.Gly449Val	-	unknown	RB1_01739	somatic
g.76443_76444insG	c.1346_1347insG	Insertion	14_ex	-	-	-	frameshift	RB1_01623	germline
g.76444_76445del	c.1347_1348del	Deletion	14_ex	-	p.(Val450Serfs*12)	-	frameshift	RB1_02065	germline
g.76453del	c.1356del	deletion	14_ex	-	p.Leu452Phefs*5	-	frameshift	RB1_00501	unknown
g.76453_g.76454insG	c.1356_1357insG	Insertion	14_ex	-	-	-	frameshift	RB1_01730	somatic
g.76459C>G	c.1362C>G	Substitution	14_ex	-	p.Tyr454X	-	nonsense	RB1_01624	germline
g.76460C>T	c.1363C>T (Reported 62 times)	substitution	14_ex	-	p.Arg455X	-	nonsense	RB1_00096	-
g.76461_76474dup	c.1364_1377dup	insertion	14_ex	-	-	-	frameshift	RB1_00727	germline
g.76464_76477del	c.1367_1380del	deletion	14_ex	-	-	-	frameshift	RB1_01361	-
g.76467T>G	c.1370T>G	substitution	14_ex	-	p.Met457Arg	-	missense	RB1_00097	-
g.76468G>A	c.1371G>A	substitution	14_ex	-	p.Met457Ile	-	missense	RB1_00952	-
g.76469G>T	c.1372G>T	substitution	14_ex	-	p.Glu458X	-	nonsense	RB1_00973	-
g.76470del	c.1373del	deletion	14_ex	-	-	-	frameshift	RB1_00815	-
g.76479del	c.1382del	deletion	14_ex	-	-	-	frameshift	RB1_00816	-
g.76579T>C	c.1382T>C	Substitution	14_ex	-	p.Leu461Pro	-	missense	RB1_01851	somatic
g.76478	c.1384insT	Insertion	14	-	p.K462Xfs*1	-	frameshift	RB1_02116	germline
g.76485C>G	c.1388C>G (Reported 3 times)	substitution	14_ex	-	p.Ser463X	-	nonsense	RB1_00098	-
g.76487G>A	c.1389+1G>A (Reported 2 times)	substitution	14_in	altered splicing	-	-	splice	RB1_00504	-
g.76487G>C	c.1389+1G>C (Reported 3 times)	substitution	14_in	altered splicing	-	-	splice	RB1_00593	-
g.76487G>T	c.1389+1G>T	Substitution	14_in	splice_donor	-	-	splice	RB1_01892	unknown
g.76488T>C	c.1389+2T>C (Reported 2 times)	substitution	14_in	altered splicing	-	-	splice	RB1_00486	-
g.76490A>G	c.1389+4A>G	substitution	14_in	altered splicing	-	-	splice	RB1_01259	-
g.76491G>A	c.1389+5G>A (Reported 6 times)	substitution	14_in	altered splicing	-	-	splice	RB1_00205	-
-	c.1389+5G>T	Substitution	14_in	-	-	-	splice	RB1_01977	germline
g.76492T>A	c.1389+6T>A	substitution	14_in	altered splicing	-	-	splice	RB1_00427	somatic
g.76678del	c.1389+192del	deletion	14_in	-	variant	-	variant	RB1_01042	-
g.76721C>G	c.1389+235C>G	substitution	14_in	-	variant	-	variant	RB1_01044	-
g.76772G>A	c.1389+286G>A	substitution	14_in	-	variant	-	variant	RB1_01045	-
g.76717A>T	c.1390-172A>T	substitution	14_in	-	variant	-	variant	RB1_01043	-
g.76721G>C	c.1390-168G>C	substitution	14_in	-	variant	-	variant	RB1_01109	-
g.76792C>T	c.1390-97C>T	substitution	14_in	-	variant	-	variant	RB1_01110	-
g.76864T>G	c.1390-25T>G	substitution	14_in	-	variant	-	variant	RB1_01046	-
g.76872del	c.1390-17del	deletion	14_in	-	variant	-	variant	RB1_01047	-
g.76875A>G	c.1390-14A>G (Reported 2 times)	substitution	14_in	altered splicing	-	-	splice	RB1_00919	-
g.76875A>T	c.1390-14A>T (Reported 8 times)	substitution	14_in	-	variant	-	variant	RB1_00517	-
g.76886del	c.1390-3del	deletion	14_in	-	-	-	-	RB1_00920	-
g.76888G>A	c.1390-1G>A	Substitution	14_in	-	-	-	unknown	RB1_01735	somatic
g.76888G>C	c.1390-1G>C	substitution	14_in	altered splicing	-	-	splice	RB1_00817	germline
-	c.1412_1421+14del	Deletion	14_ex	-	p.Gln471Profs*4	-	frameshift	RB1_01979	somatic
g.76889G>T	c.1390G>T (Reported 2 times)	substitution	15_ex	-	p.Glu464X/splice	-	nonsense	RB1_00642	-
g.76889_77027del	c.1390_1448del	deletion	15_ex	-	p.Glu464TyrfsX8	-	frameshift	RB1_00265	-
g.76892G>T	c.1393G>T	Substitution	15_ex	-	-	-	unknown	RB1_01681	somatic
g.76894delA	c.1395delA	Deletion	15_ex	-	p.(Glu466Asnfs*12)	-	frameshift	RB1_01925	unknown
g.76895G>T	c.1396G>T	substitution	15_ex	-	p.Glu466X	-	nonsense	RB1_00507	-
-	c.1398del	Deletion	15_ex	-	p.Glu466Aspfs*12	-	frameshift	RB1_01978	germline
g.76898C>T	c.1399C>T (Reported 55 times)	substitution	15_ex	-	p.Arg467X	-	nonsense	RB1_00099	-
g.76898_76900delinsT	c.1399_1401delinsT	Other/Complex	15_ex	-	p.(Arg467Phefs*7)	-	frameshift	RB1_01926	unknown
g.76899_76901dup	c.1400_402dup	Duplication	15_ex	-	p.Leu468*	-	nonsense	RB1_01868	germline
g.76899_76902dup	c.1400_1403dup	insertion	15_ex	-	-	-	frameshift	RB1_00819	-
g.76900_76910dup	c.1402_1412dup	insertion	15_ex	-	p.Gln471Hisfs*11	-	frameshift	RB1_00257	unknown
g.76902insGATT	c.1403insGATT	Insertion	15_ex	-	-	-	frameshift	RB1_01625	germline
g.76910C>T	c.1411C>T (Reported 4 times)	substitution	15_ex	-	p.Gln471X	-	nonsense	RB1_00976	-
g.76912_76915dup	c.1413_1416dup	insertion	15_ex	-	p.Phe473Lysfs*3	-	frameshift	RB1_00100	unknown
g.76913_76944del	c.1414_1421+24del	deletion	15_ex	-	480X	-	frameshift	RB1_00665	-
g.76914delA	c.1415delA	Deletion	15_ex	-	p.(Asn472Ilefs*6)	-	frameshift	RB1_01927	unknown
g.76915_76916insAAA	c.1416_1417insAAA	Insertion	15_ex	-	p.Asn472_Phe473insLys	-	missense	RB1_01810	somatic
g.76918_76962del	c.1419_1422+39del	deletion	15_ex	skip exon 15	skip exon 15	-	splice	RB1_00666	unknown
g.76919del	c.1420del	Deletion	15_ex	-	p.(Ser474Alafs*4)	-	frameshift	RB1_02067	germline
g.76919_76948del	c.1420_1421+28del	deletion	15_ex	-	477X	-	frameshift	RB1_00101	-
-	c.1420_1421+30del	Deletion	15_ex	-	p.Ser474Phefs*8	-	frameshift	RB1_01980	somatic
g.76918_76949del	c.1420_1451del	Deletion	15_ex	-	p.(Ser474Valfs*8)	-	frameshift	RB1_02066	germline
g.76920del	c.1421del (Reported 2 times)	complex	15_ex	altered splicing	-	-	splice	RB1_00245	-
g.76920G>A	c.1421G>A (Reported 5 times)	substitution	15_ex	altered splicing	-	-	splice	RB1_00715	-
g.76920G>C	c.1421G>C	Substitution	15_ex	-	p.Ser474Thr	-	missense	RB1_01682	germline
g.76920G>T	c.1421G>T	Substitution	15_ex	splice	-	-	splice	RB1_01626	germline
g.76921G>A	c.1421+1G>A (Reported 2 times)	substitution	15_in	altered splicing	-	-	splice	RB1_00313	-
g.76921G>C	c.1421+1G>C	substitution	15_in	altered splicing	-	-	splice	RB1_00917	-
g.76922T>C	c.1421+2T>C	substitution	15_in	altered splicing	-	-	splice	RB1_00270	germline
g.76923A>T	c.1421+3A>T	substitution	15_in	altered splicing	-	-	splice	RB1_01245	-
g.76923_76943del	c.1421+3_1421+23del (Reported 2 times)	deletion	15_in	altered splicing	-	-	splice	RB1_00258	-
g.76923_76950del28	c.1421+3_1421+30del	Deletion	15_in	-	-	-	splice	RB1_01745	somatic

801 - 900
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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)