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LOVD - Variant listings for RB1

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?/? g.170403G>T c.2520+1G>T substitution 24_in altered splicing - - splice RB1_00250 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.170403G>T c.2520+1G>T substitution 24_in altered splicing - - splice RB1_00250 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170403G>T c.2520+1G>T substitution 24_in altered splicing - - splice RB1_00250 - Fam725 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.170403_170406del c.2520+1_2520+4del deletion 24_in - - - - RB1_01358 - RB-24 bilateral rb germline blood DNA - - - 1 published -
?/? g.170404T>A c.2520+2T>A substitution 24_in altered splicing - - splice RB1_01249 germline CU010 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? 170404T>G c.2520+2T>G substitution 24_in skip exon24 skip exon 24 - splice RB1_01136 - E4156 unilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? 170404T>G c.2520+2T>G
    + c.1654C>T		 substitution 24_in skip exon24 skip exon 24 - splice RB1_01136 germline E4156 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.170404_170408del c.2520+2_2520+6del Deletion 24_ex altered splicing - - in-frame RB1_01662 germline bilateral_477 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.170405delGinsGA c.2520+3delGinsGA Other/Complex 24_in - - - unknown RB1_01820 somatic S83196 other cancer somatic tumor DNA - - COSMIC - COSM1022 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - GOS551 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - TS27 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - TS125 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - G444 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - Fam364 bilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - not provided bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - not provided - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.170405_170408del c.2520+3_2520+6del deletion 24_in altered splicing - - splice RB1_00220 - RB-72 bilateral rb germline blood DNA - isolated - 1 published -
+/? - c.2520+4A>G Substitution 24_in - - - splice RB1_02001 somatic fam-no_20101932 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published No RNA available
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - not provided bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - 0853 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.170407G>A c.2520+5G>A substitution 24_in altered splicing - - splice RB1_00385 - CU035 bilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.170407G>C c.2520+5G>C substitution 24_in altered splicing - - splice RB1_01144 - Fam26 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.170407G>C c.2520+5G>C substitution 24_in altered splicing - - splice RB1_01144 - T6 bilateral rb germline blood DNA - familial Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.170407G>C c.2520+5G>C substitution 24_in altered splicing - - splice RB1_01144 - RB-63 bilateral rb germline blood DNA - familial - 1 published -
+/? - c.2520+6T>C Substitution 24_in - - - splice RB1_02002 germline fam-no_20000099 retinoblastoma germline blood DNA unknown familial Dommering et al. 2014, Germany:Essen 1 published Incomplete penetrance Skip of exon 24
?/? g.171633G>C c.2520+1231G>C substitution 24_in - variant - variant RB1_01081 - not provided no cancer - nd DNA - - - 1 published -
?/? g.171633G>C c.2520+1231G>C substitution 24_in - variant - variant RB1_01081 - not provided - - nd DNA - - dbSNP 1 - -
?/? g.171795T>C c.2520+1393T>C substitution 24_in - variant - variant RB1_01082 - not provided no cancer - nd DNA - - - 1 published -
?/? g.171935C>G c.2521-1772C>G substitution 24_in - variant - variant RB1_00989 - not provided no cancer - nd DNA - - - 1 published -
?/? g.173568T>C c.2521-139T>C substitution 24_in - variant - variant RB1_01128 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.173674T>G c.2521-33T>G substitution 24_in - variant - variant RB1_00609 - not provided no cancer germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.173695T>A c.2521-12T>A substitution 24_in - variant - variant RB1_01129 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.173696G>A c.2521-11G>A substitution 24_in - variant - variant RB1_01062 - not provided no cancer - nd DNA - - Lohmann - Essen 1 published -
+/? - c.2490–1G>A Substitution 25_ex - - - splice RB1_02042 unknown Tab_1_21 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
+/? - c.2527G>T Substitution 25_ex - Glu843* - nonsense RB1_02003 somatic fam-no_20114481 retinoblastoma somatic blood, tumour DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.173721C>A c.2535C>A substitution 25_ex - p.Phe845Leu - missense RB1_00703 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/? g.173721C>A c.2535C>A substitution 25_ex - p.Phe845Leu - missense RB1_00703 - T38 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.173722C>T c.2536C>T substitution 25_ex - p.Gln846X - nonsense RB1_00685 - Fam345 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.173722C>T c.2536C>T substitution 25_ex - p.Gln846X - nonsense RB1_00685 - Fam155 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.173722dup c.2536dup insertion 25_ex - - - - RB1_00962 - Fam619 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - E1479 bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - Fam786 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 - Fam792 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.173734C>T c.2548C>T substitution 25_ex - p.Gln850X - nonsense RB1_00243 somatic NCI-H146 other cancer somatic nd DNA - - COSMIC - COSM13404 1 published -
?/+ g.173736dup c.2550dup insertion 25_ex - p.Met851Aspfs*4 - frameshift RB1_00185 unknown CRS-A2 - somatic Glioma Cell line DNA - - Paggi et al., 1994 1 published -
?/+ g.173738del c.2552del deletion 25_ex - - - frameshift RB1_00859 - Fam817 unilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.173752G>A c.2566G>A Substitution 25_ex - p.Asp856Asn - unknown RB1_01815 somatic 1KG_13_49050882 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.173754 c.2569dup Duplication 25_ex - p.Arg857Profs*8 - unknown RB1_01806 somatic rs66961080 other cancer somatic nd DNA - unknown dbSNP 1 published -
?/? g.173768insT c.2582_2582insT insertion 25_ex - p.Arg861SerfsX3 - - RB1_00860 - Fam369 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.173770del c.2584del deletion 25_ex - p.Ser862Valfs*11 - frameshift RB1_00861 unknown Fam625 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.173776G>T c.2590G>T Substitution 25_ex - p.Glu864X - nonsense RB1_01770 somatic ng_un_is_tu_468 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.173812C>T c.2626C>T Substitution 25_ex - p.Arg876Cys - unknown RB1_01816 somatic 1KG_13_49050942 other cancer unknown nd DNA - - http://www.1000genomes.org/ 1 published -
?/+ g.173813del c.2627del deletion 25_ex - p.Arg876Profs*29 - frameshift RB1_01239 unknown 0973 unilateral rb germline blood DNA - isolated Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/? g.173849G>A c.2663G>A Substitution 25_ex Substitution p.(Ser888Asn) - splice RB1_01876 unknown Supp_Tab_Mt-111 - - nd DNA - - Price et al., 2013 1 published -
?/? g.173849_173856del c.2663_2671del Deletion 25_ex - p.(Ser888_Leu891delinsIle) - frameshift RB1_02095 germline P_20140723_478 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - not provided - germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - Fam567 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.173850G>A c.2663+1G>A substitution 25_in altered splicing - - splice RB1_00960 - E13 unilateral rb germline blood DNA - - Zhang et al. (2008) Hum Mutat 29: 475 1 published -
?/? g.173850G>C c.2663+1G>C Substitution 25_in splice - - splice RB1_01665 germline bilateral_487 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.173850G>T c.2663+1G>T Substitution 25_in - - - unknown RB1_01769 somatic ng_un_is_tu_466 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.173851T>A c.2663+2T>A substitution 25_in altered splicing - - splice RB1_00355 - E2119 bilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.173851T>A c.2663+2T>A
    + c.1072C>T		 substitution 25_in altered splicing - - splice RB1_00355 germline E2119 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 unpublished -
?/? g.173851T>C c.2663+2T>C Substitution 25_in - - - nonsense RB1_01664 germline bilateral_486 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.49050981T>C c.2663+2T>C Substitution IVS25 r.2521_2663del p.(Thr841*) - splice RB1_01664 germline #3000/15 bilateral rb - blood DNA - familial Italy:Siena 1 unpublished Disruption of C-terminus. Hyypomorphic mutation and parental of origin effect
?/? g.173882T>C c.2663+33T>C substitution 25_in - variant - variant RB1_00488 - RB35 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.173882T>C c.2663+33T>C substitution 25_in - variant - variant RB1_00488 - RB39 unilateral rb somatic retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.173882T>C c.2663+33T>C substitution 25_in - variant - variant RB1_01063 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.173882T>C c.2663+33T>C substitution 25_in - variant - variant RB1_00488 - not provided - - nd DNA - - dbSNP 1 - -
?/? g.173894C>T c.2663+45C>T Substitution 25_in - - - unknown RB1_01774 somatic ng_un_is_notu_4 no cancer somatic nd DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.174179A>G c.2664-182A>G substitution 25_in - variant - variant RB1_01130 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.174293G>A c.2664-68G>A substitution 25_in - variant - variant RB1_01131 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - RB36 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - not provided no cancer germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - 274 unilateral rb germline blood DNA - isolated Dalamon et al. (2004) J Biochem Mol Biol 37: 246 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - SR01 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - SR04 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - SR16 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - SR26 unilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - SR23 bilateral rb germline blood DNA - - Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.174351T>A c.2664-10T>A substitution 25_in - variant - variant RB1_00489 - not provided bilateral rb germline blood DNA - isolated Barbosa et al. (2009), BMC Med Genet; 10: 75. 1 published -
+/+? g.174384_17436del c.2686_2688del Deletion 26_ex - p.Lys896del & p.Phe897Ile - in-frame RB1_01400 - Case no.1 other cancer somatic tumor RNA unknown unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/? g.174383_5del c.2687_2689del Deletion 26_ex - p.Lys896_Phe897delinsIle - unknown RB1_01817 somatic S81114 other cancer somatic tumor DNA - - COSMIC - COSM857 1 published -
?/? g.174438C>T c.2713+28C>T substitution 26_in - variant - variant RB1_01132 - not provided rb germline blood DNA - - Leone et al. (2003) J Hum Genet 48(12): 639-41. 1 published -
?/? g.174438C>T c.2713+28C>T substitution 26_in - variant - variant RB1_01132 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.176991T>C c.2714-18T>C Substitution 26_in - - - unknown RB1_01845 somatic 1KG_13_49054116 no cancer somatic nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.177008_177009dupCT c.2717_2718dupCT Duplication 27_ex p.Asn217fsX10 - - frameshift RB1_01506 germline nd unilateral rb germline blood and tumor DNA - familial low penetrance Mitter et al. (2009), Fam Cancer;8(1):55-8. Epub 2008 May 29. 1 published -
?/? g.1862G>T c.-198G>T Substitution Pro Promotor tfbinding - unknown RB1_01877 unknown Supp_Tab_Mt-No1 - - nd DNA - - Price et al., 2013 1 published -
+?/? g.1863G>A c.-197G>A Substitution Prom - - - promoter RB1_00928 germline 449 bilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
+?/? g.1868G>A c.-192G>A
    + c.-192G>A		 Substitution Prom - - - promoter RB1_01534 germline 160 unilateral rb germline leukocytes DNA unknown familial low penetrance Argentina: Buenos Aires 1 unpublished -
+?/? g.1868G>A c.-192G>A Substitution Prom - - - promoter RB1_01534 germline 501 unilateral rb germline leukocytes DNA unknown isolated Argentina: Buenos Aires 1 unpublished -
3301 - 3394
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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.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. 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) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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