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.149986T>G	c.1696-12T>G (Reported 2 times)	substitution	17_in	altered splicing	-	-	splice	RB1_00825	-
g.149991>T	c.1696-7C>T	Substitution	17_in	-	-	-	unknown	RB1_01818	unknown
g.149994A>G	c.1696-4A>G	Substitution	17_in	-	-	-	unknown	RB1_01819	unknown
g.149995T>G	c.1696-3T>G	substitution	17_in	altered splicing	-	-	splice	RB1_00347	germline
g.149996A>G	c.1696-2A>G	Substitution	17_in	splice_acceptor	-	-	unknown	RB1_01888	unknown
g.149997A>G	c.1696-1G>A (Reported 3 times)	substitution	17_in	altered splicing	-	-	splice	RB1_00209	-
g.149997G>T	c.1696-1G>T	Substitution	17_in	altered splicing	-	-	unknown	RB1_01485	somatic
g.149998G>A	c.1696G>A	substitution	18_ex	altered splicing	-	-	splice	RB1_01319	-
g.150002C>A	c.1700C>A (Reported 2 times)	Substitution	18_ex	-	p.Ser567*	-	nonsense	RB1_01513	somatic
g.150002C>T	c.1700C>T (Reported 2 times)	substitution	18_ex	-	p.Ser567Leu	-	missense	RB1_00004	-
g.150002_150045dup	c.1700_1743dup	insertion	18_ex	-	-	-	frameshift	RB1_00278	germline
g.150005dup	c.1703dup	Insertion	18_ex	-	p.(Leu569Phefs*3)	-	frameshift	RB1_02074	germline
g.150005_150008del	c.1703_1706del	deletion	18_ex	-	p.Pro568Hisfs*42	-	frameshift	RB1_00605	unknown
g.150006_150008del	c.1704_1706del	deletion	18_ex	-	p.Leu569del	-	in-frame	RB1_00125	-
g.150008T>G	c.1706T>G	substitution	18_ex	-	p.Leu569X	-	nonsense	RB1_00475	germline
g.150009A>G	c.1707A>G (Reported 3 times)	substitution	18_ex	-	variant	-	variant	RB1_01050	-
g.150009A>T	c.1707A>T	Substitution	18_ex	-	p.Leu569Phe	-	missense	RB1_01811	unknown
g.150009del	c.1707del	deletion	18_ex	-	p.Leu569Phefs*42	-	frameshift	RB1_00126	unknown
-	c.1707_1710del	Deletion	18_ex	-	p.Phe570Ilefs*40	-	frameshift	RB1_01983	germline
g.150010_150011del	c.1708_1709del	Deletion	18_ex	-	-	-	frameshift	RB1_01638	germline
g.150011_150012del	c.1709_1710del	deletion	18_ex	-	p.(Lys577_Arg579del)	-	frameshift	RB1_00672	unknown
g.150011_150012dup	c.1709_1710dup	insertion	18_ex	-	-	-	frameshift	RB1_00827	-
g.150012dup	c.1710dup	insertion	18_ex	-	p.(Asp571*)	-	frameshift	RB1_00553	unknown
g.150012insTT	c.1710insTT	Insertion	18_ex	-	-	-	frameshift	RB1_01637	germline
g.150018_150019insA	c.1717dup	Duplication	18_ex	-	p.Ile573Asnfs*2	-	frameshift	RB1_01562	somatic
g.150019_150020el	c.1717_1718del	Deletion	18_ex	-	p.(Ile573*)	-	unknown	RB1_02075	germline
g.150024insA	c.1722insA	Insertion	18_ex	-	-	-	frameshift	RB1_01788	somatic
g.150025C>T	c.1723C>T (Reported 10 times)	substitution	18_ex	-	p.Gln575X	-	nonsense	RB1_00128	-
g.150026ins17	c.1724_1725ins17	insertion	18_ex	-	-	-	-	RB1_00889	-
g.150028_150031del	c.1726_1729del (Reported 5 times)	deletion	18_ex	-	p.Ser576Argfs*34	-	frameshift	RB1_00127	unknown
g.150029C>A	c.1727C>A (Reported 2 times)	Substitution	18_ex	-	p.Ser576X	-	unknown	RB1_01697	somatic
g.150029C>G	c.1727C>G	Substitution	18_ex	-	p.Ser576X	-	unknown	RB1_01514	somatic
g.150029_150032del	c.1727_1730del	deletion	18_ex	-	p.Ser576Trpfs*34	-	frameshift	RB1_01228	unknown
g.150031_150040del	c.1729_1737del	deletion	18_ex	-	p.Lys577ArgfsX3	-	frameshift	RB1_00294	somatic
g.150033_150034delinsT	c.1731_1732delinsT	Insertion/Deletion	18_ex	-	p.(Lys577Asnfs*34)	-	frameshift	RB1_01861	somatic
g.150034delG	c.1732del	Deletion	18_ex	-	p.Asp578Thrfs*33	-	frameshift	RB1_01429	unknown
g.150032_150038dup	c.1732_1738dup	insertion	18_ex	-	p.Glu580Glyfs*7	-	frameshift	RB1_00130	unknown
g.150045A>C	c.1733A>C	substitution	18_ex	-	p.Asp578Ala	-	missense	RB1_00708	-
g.150045_150046insAdelCC	c.1733_1734insAdelCC	Other/Complex	18_ex	-	-	-	frameshift	RB1_01711	somatic
g.150036_150037dup	c.1734_1735dup	insertion	18_ex	-	p.Arg579Profs*33	-	frameshift	RB1_01142	somatic
g.150037C>T	c.1735C>T (Reported 94 times)	substitution	18_ex	-	p.Arg579X	-	nonsense	RB1_00129	-
g.150037del	c.1735del (Reported 3 times)	deletion	18_ex	-	-	-	frameshift	RB1_00451	-
g.150037dup	c.1735dup	Duplication	18_ex	-	p.(Arg579Profs*6)	-	unknown	RB1_01857	somatic
g.150038del	c.1736del	Deletion	18_ex	-	Arg579Glnfs*32	-	frameshift	RB1_01465	somatic
g.150038delinsTCT	c.1736delinsTCT	complex	18_ex	-	-	-	-	RB1_00899	-
g.150038_150047del	c.1736_1742del	deletion	18_ex	-	-	-	frameshift	RB1_01165	-
g.150037_150046del	c.1736_1745del (Reported 2 times)	deletion	18_ex	-	p.Arg579Glnfs*29	-	frameshift	RB1_00014	unknown
g.150040G>T	c.1738G>T	substitution	18_ex	-	p.Glu580X	-	nonsense	RB1_00131	-
-	c.1746_1749dup	Duplication	18_ex	-	p.Asp584Asnfs*2	-	frameshift	RB1_01984	somatic
g.150050delC	c.1748delC	Deletion	18_ex	-	p.(Thr583Metfs*28)	-	frameshift	RB1_01928	unknown
-	c.1752_1753insGGTTTCA	Insertion	18_ex	-	p.His585Glyfs*5	-	frameshift	RB1_01985	germline
g.150055C>T	c.1753C>T (Reported 2 times)	Substitution	18_ex	-	p.His585Tyr	-	missense	RB1_01406	-
g.150056_150065del	c.1754_1763del	Deletion	18_ex	-	p.His585Leufs*23	-	frameshift	RB1_00673	unknown
g.150061G>T	c.1759G>T	Substitution	18_ex	-	p.Glu587X	-	nonsense	RB1_01743	somatic
g.150058_150067del	c.1760_1769del (Reported 5 times)	deletion	18_ex	-	p.Glu587Valfs*21	-	frameshift	RB1_00132	unknown
g.150062_150071del10	c.1760_1769del10	Deletion	18_ex	-	p.(Glu587Valfs*21)	-	frameshift	RB1_01929	unknown
g.150064ins4	c.1762_1763ins4	insertion	18_ex	-	-	-	frameshift	RB1_00484	-
g.150066del	c.1764del	Deletion	18_ex	-	p.(Ala589Leufs*22)	-	frameshift	RB1_01863	germline
g.150067insGG	c.1765_1766insGG (Reported 2 times)	insertion	18_ex	-	p.Ala589Glyfs*23	-	frameshift	RB1_00702	unknown
-	c.1770T>A	Substitution	18_ex	-	p.Cys590*	-	nonsense	RB1_01986	germline
g.150072T>C	c.1770T>C	Substitution	18_ex	-	p.Cys590Cys	-	silent	RB1_01394	-
g.150077_150090del	c.1775_1788del	deletion	18_ex	-	-	-	frameshift	RB1_00468	somatic
g.150080delA	c.1778delA	Substitution	18_ex	-	-	-	frameshift	RB1_01746	somatic
g.150080dup	c.1778dup	insertion	18_ex	-	-	-	-	RB1_00829	-
g.150091C>T	c.1789C>T	substitution	18_ex	-	p.Gln597X	-	nonsense	RB1_00230	somatic
g.150094_150121del28	c.1792_1814+5del28	Deletion	18_ex	splice_donor del	-	-	unknown	RB1_01889	unknown
g.150098A>G	c.1796A>G (Reported 2 times)	substitution	18_ex	-	variant	-	variant	RB1_01051	-
g.150098dup	c.1796dup	insertion	18_ex	-	p.Asn599Lysfs*54	-	frameshift	RB1_00376	somatic
g.150102del	c.1800del	deletion	18_ex	-	p.His600Glnfs*11	-	frameshift	RB1_00535	unknown
g.150104del	c.1802del (Reported 2 times)	deletion	18_ex	-	p.(Thr601Metfs*10)	-	frameshift	RB1_00583	unknown
g.150105del	c.1803del	deletion	18_ex	-	p.(Ala602Glnfs*9)	-	frameshift	RB1_00554	unknown
g.150108del	c.1806del	deletion	18_ex	-	-	-	frameshift	RB1_00734	somatic
g.150109del	c.1807del	deletion	18_ex	-	-	-	frameshift	RB1_00830	-
g.150112_150113dup	c.1810_1811dup	insertion	18_ex	-	p.Asp604Glufs*8	-	frameshift	RB1_00134	unknown
g.150113A>G	c.1811A>G (Reported 3 times)	substitution	18_ex	-	p.Asp604Gly	Asp604Gly	missense-splice	RB1_00401	-
g.150117G>A	c.1814+1G>A (Reported 4 times)	substitution	18_in	simple skip	simple skip	-	splice	RB1_00274	-
g.150117G>C	c.1814+1G>C	substitution	18_in	altered splicing	-	-	splice	RB1_00212	-
g.150118T>C	c.1814+2T>C (Reported 3 times)	substitution	18_in	altered splicing	-	-	splice	RB1_00597	-
g.150118T>G	c.1814+2T>G	substitution	18_in	altered splicing	-	-	splice	RB1_00295	germline
g.150119A>C	c.1814+3A>C	Substitution	18_in	splice	-	-	splice	RB1_01777	germline
g.150127T>C	c.1814+11T>C (Reported 2 times)	substitution	18_in	-	variant	-	variant	RB1_00214	-
g.150148A>G	c.1814+32A>G	substitution	18_in	-	-	-	nonsense	RB1_00525	-
g.150188T>G	c.1814+72T>G	substitution	18_in	-	variant	-	variant	RB1_01074	-
g.153095A>G	c.1815-113A>G	substitution	18_in	-	variant	-	variant	RB1_01053	-
g.153104A>G	c.1815-104A>G	substitution	18_in	-	variant	-	variant	RB1_01054	-
g.153197A>G	c.1815-11A>G	substitution	18_in	-	intron inclusion 10bp	-	splice new acceptor	RB1_00640	-
g.153104delA	c.1815-10delA	Deletion	18_in	-	-	-	unknown	RB1_01841	somatic
-	c.1815-5T>C	Substitution	18_in	-	-	-	variant	RB1_01874	unknown
g.153203_153204dup	c.1815-5_1815-4dup	insertion	18_in	altered splicing	-	-	splice	RB1_00213	-
g.153206A>G	c.1815-2A>G	Substitution	18_in	splice	-	-	splice	RB1_01669	germline
g.153207G>A	c.1815-1G>A	substitution	18_in	altered splicing	-	-	splice	RB1_01150	-
g.153207G>C	c.1815-1G>C	Substitution	18_in	-	-	-	unknown	RB1_01753	somatic
g.153207G>T	c.1815-1G>T	Substitution	18_in	-	-	-	splice	RB1_01438	unknown
g.153240delinsTT	c.1847delinsTT	Insertion/Deletion	18_ex	-	p.(Lys616Ilefs*37)	-	frameshift	RB1_02076	germline
g.153358	G>A	Substitution	19	c.1960+5G>A	-	-	splice	RB1_02110	germline
g.153209dup	c.1816dup	insertion	19_ex	-	p.Tyr606Leufs*47	-	frameshift	RB1_00135	unknown
g.153210dupA	c.1817dupA	Duplication	19_ex	-	p.(Tyr606*)	-	nonsense	RB1_01944	unknown
g.153211T>G	c.1818T>G	substitution	19_ex	-	p.Tyr606X	-	nonsense	RB1_01195	-
g.153212C>A	c.1819C>A	Substitution	19_ex	-	p.Leu607Ile	-	missense	RB1_01391	-
g.153213_153214del	c.1820_1821del	Deletion	19_ex	-	p.Pro609Cysfs*43	-	frameshift	RB1_02015	somatic

1101 - 1200
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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)