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.170403G>A	c.2520+1G>A (Reported 6 times)	substitution	24_in	altered splicing	-	-	splice	RB1_00750	-
g.170403G>T	c.2520+1G>T (Reported 4 times)	substitution	24_in	altered splicing	-	-	splice	RB1_00250	-
g.170403_170406del	c.2520+1_2520+4del	deletion	24_in	-	-	-	-	RB1_01358	-
g.170404T>A	c.2520+2T>A	substitution	24_in	altered splicing	-	-	splice	RB1_01249	germline
170404T>G	c.2520+2T>G (Reported 2 times)	substitution	24_in	skip exon24	skip exon 24	-	splice	RB1_01136	-
g.170404_170408del	c.2520+2_2520+6del	Deletion	24_ex	altered splicing	-	-	in-frame	RB1_01662	germline
g.170405delGinsGA	c.2520+3delGinsGA	Other/Complex	24_in	-	-	-	unknown	RB1_01820	somatic
g.170405_170408del	c.2520+3_2520+6del (Reported 10 times)	deletion	24_in	altered splicing	-	-	splice	RB1_00220	-
-	c.2520+4A>G	Substitution	24_in	-	-	-	splice	RB1_02001	somatic
g.170407G>A	c.2520+5G>A (Reported 4 times)	substitution	24_in	altered splicing	-	-	splice	RB1_00385	-
g.170407G>C	c.2520+5G>C (Reported 3 times)	substitution	24_in	altered splicing	-	-	splice	RB1_01144	-
-	c.2520+6T>C	Substitution	24_in	-	-	-	splice	RB1_02002	germline
g.171633G>C	c.2520+1231G>C (Reported 2 times)	substitution	24_in	-	variant	-	variant	RB1_01081	-
g.171795T>C	c.2520+1393T>C	substitution	24_in	-	variant	-	variant	RB1_01082	-
g.171935C>G	c.2521-1772C>G	substitution	24_in	-	variant	-	variant	RB1_00989	-
g.173568T>C	c.2521-139T>C	substitution	24_in	-	variant	-	variant	RB1_01128	-
g.173674T>G	c.2521-33T>G	substitution	24_in	-	variant	-	variant	RB1_00609	-
g.173695T>A	c.2521-12T>A	substitution	24_in	-	variant	-	variant	RB1_01129	-
g.173696G>A	c.2521-11G>A	substitution	24_in	-	variant	-	variant	RB1_01062	-
-	c.2490–1G>A	Substitution	25_ex	-	-	-	splice	RB1_02042	unknown
-	c.2527G>T	Substitution	25_ex	-	Glu843*	-	nonsense	RB1_02003	somatic
g.173721C>A	c.2535C>A (Reported 2 times)	substitution	25_ex	-	p.Phe845Leu	-	missense	RB1_00703	-
g.173722C>T	c.2536C>T (Reported 2 times)	substitution	25_ex	-	p.Gln846X	-	nonsense	RB1_00685	-
g.173722dup	c.2536dup	insertion	25_ex	-	-	-	-	RB1_00962	-
g.173734C>T	c.2548C>T (Reported 4 times)	substitution	25_ex	-	p.Gln850X	-	nonsense	RB1_00243	-
g.173736dup	c.2550dup	insertion	25_ex	-	p.Met851Aspfs*4	-	frameshift	RB1_00185	unknown
g.173738del	c.2552del	deletion	25_ex	-	-	-	frameshift	RB1_00859	-
g.173752G>A	c.2566G>A	Substitution	25_ex	-	p.Asp856Asn	-	unknown	RB1_01815	somatic
g.173754	c.2569dup	Duplication	25_ex	-	p.Arg857Profs*8	-	unknown	RB1_01806	somatic
g.173768insT	c.2582_2582insT	insertion	25_ex	-	p.Arg861SerfsX3	-	-	RB1_00860	-
g.173770del	c.2584del	deletion	25_ex	-	p.Ser862Valfs*11	-	frameshift	RB1_00861	unknown
g.173776G>T	c.2590G>T	Substitution	25_ex	-	p.Glu864X	-	nonsense	RB1_01770	somatic
g.173812C>T	c.2626C>T	Substitution	25_ex	-	p.Arg876Cys	-	unknown	RB1_01816	somatic
g.173813del	c.2627del	deletion	25_ex	-	p.Arg876Profs*29	-	frameshift	RB1_01239	unknown
g.173849G>A	c.2663G>A	Substitution	25_ex	Substitution	p.(Ser888Asn)	-	splice	RB1_01876	unknown
g.173849_173856del	c.2663_2671del	Deletion	25_ex	-	p.(Ser888_Leu891delinsIle)	-	frameshift	RB1_02095	germline
g.173850G>A	c.2663+1G>A (Reported 4 times)	substitution	25_in	altered splicing	-	-	splice	RB1_00960	-
g.173850G>C	c.2663+1G>C	Substitution	25_in	splice	-	-	splice	RB1_01665	germline
g.173850G>T	c.2663+1G>T	Substitution	25_in	-	-	-	unknown	RB1_01769	somatic
g.173851T>A	c.2663+2T>A (Reported 2 times)	substitution	25_in	altered splicing	-	-	splice	RB1_00355	-
g.173851T>C	c.2663+2T>C (Reported 2 times)	Substitution	25_in	-	-	-	nonsense	RB1_01664	germline
g.173882T>C	c.2663+33T>C (Reported 4 times)	substitution	25_in	-	variant	-	variant	RB1_00488	-
g.173894C>T	c.2663+45C>T	Substitution	25_in	-	-	-	unknown	RB1_01774	somatic
g.174179A>G	c.2664-182A>G	substitution	25_in	-	variant	-	variant	RB1_01130	-
g.174293G>A	c.2664-68G>A	substitution	25_in	-	variant	-	variant	RB1_01131	-
g.174351T>A	c.2664-10T>A (Reported 9 times)	substitution	25_in	-	variant	-	variant	RB1_00489	-
g.174384_17436del	c.2686_2688del	Deletion	26_ex	-	p.Lys896del & p.Phe897Ile	-	in-frame	RB1_01400	-
g.174383_5del	c.2687_2689del	Deletion	26_ex	-	p.Lys896_Phe897delinsIle	-	unknown	RB1_01817	somatic
g.174438C>T	c.2713+28C>T (Reported 2 times)	substitution	26_in	-	variant	-	variant	RB1_01132	-
g.176991T>C	c.2714-18T>C	Substitution	26_in	-	-	-	unknown	RB1_01845	somatic
g.177008_177009dupCT	c.2717_2718dupCT	Duplication	27_ex	p.Asn217fsX10	-	-	frameshift	RB1_01506	germline
g.1862G>T	c.-198G>T	Substitution	Pro	Promotor	tfbinding	-	unknown	RB1_01877	unknown
g.1868G>A	c.-192G>A (Reported 3 times)	Substitution	Prom	-	-	-	promoter	RB1_01534	germline

1701 - 1753
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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)