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LOVD - Variant listings for RB1

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?/? g.78084A>C c.1500A>C substitution 17_ex - p.Arg500Ser - missense RB1_00936 - Fam477 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78088_78094delinsTCTCAAGAATCTCAAGAATCA c.1504_1510delinsTCTCAAGAATCTCAAGAATC complex 17_ex - p.Thr502Serfs*10 - frameshift RB1_00112 unknown RB247 bilateral rb somatic retinoblastoma DNA hemi/homozygous - Shimizu et al., 1994 1 published -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - Fam444 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - Fam463 bilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78094C>T c.1510C>T substitution 17_ex - p.Gln504X - nonsense RB1_00668 - T9 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.78102T>G c.1518T>G substitution 17_ex - p.Leu506Leu - - RB1_01371 - not provided unilateral rb - retinoblastoma DNA - - - 1 unpublished -
?/+ g.78116_78120del c.1532_1536del deletion 17_ex - - - frameshift RB1_00455 somatic E2362 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78118_78119del c.1534_1535del deletion 17_ex - - - frameshift RB1_01226 - SR15 bilateral rb germline blood DNA - isolated Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/+ g.78119del c.1535del deletion 17_ex - p.Leu512Cysfs*7 - frameshift RB1_00113 unknown G32 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.78119del c.1535del deletion 17_ex - p.Leu512Cysfs*7 - frameshift RB1_00113 unknown G32 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.78119del c.1535del deletion 17_ex - p.Leu512Cysfs*7 - frameshift RB1_00113 unknown not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78119_78120del c.1535_1536del deletion 17_ex - p.(Leu512Phefs*10) - frameshift RB1_00756 unknown 14b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.78119_78120del c.1535_1536del deletion 17_ex - p.(Leu512Phefs*10) - frameshift RB1_00756 unknown 14b rb germline nd DNA - - JL Gala - Brussels 1 unpublished -
?/? g.78120delG c.1536delG Deletion 17_ex - - - frameshift RB1_01630 germline bilateral_326 bilateral rb germline blood DNA - familial not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78120_78121del c.1536_1537del deletion 17_ex - p.Leu512Phefs*10 - frameshift RB1_00782 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78121del c.1537del deletion 17_ex - p.Ser513Leufs*6 - frameshift RB1_00822 unknown Fam9 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
+/+? g.78121_78122del c.1538_1539del Deletion 17_ex - p.Ser513Phefs*9 - frameshift RB1_01402 unknown Case 14 other cancer unknown tumor RNA unknown unknown Kubota et al. (1995) Prostate. 1995 Dec;27(6):314-20. 1 published prostate cancer
?/? g.78124T>C c.1540T>C Substitution 17_ex - p.Phe514Leu - unknown RB1_01772 germline ge_is_notu_28 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished no tumor, father +
?/? g.78128C>T c.1544C>T Substitution 17_ex - p.Pro515Leu - unknown RB1_01572 somatic BT-20 other cancer somatic nd DNA - - COSMIC - COSM35888, Hollestelle et al., 2009 1 published probably damaging / deleterious
?/? g.78128delC c.1544delC Deletion 17_ex - - - frameshift RB1_01740 somatic ng_un_is_tu_370 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78131G>A c.1547G>A substitution 17_ex - p.Trp516* - nonsense RB1_00481 germline RB59 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/? g.78135_78137del c.1551_1553del Deletion 17_ex - p.(Ile517_Leu518delinsMet) - unknown RB1_02073 germline P_20140723_298 unilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/+ g.78141del c.1557del deletion 17_ex - p.Asn519Lysfs*5 - frameshift RB1_00780 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78141insATTTAAT c.1557_1558insATTTAAT insertion 17_ex - p.Val520Ilefs*2 - frameshift RB1_00114 unknown BB18 bilateral rb germline blood DNA not reported isolated Liu et al., 1995 1 published -
?/+ g.78152T>G c.1568T>G substitution 17_ex - p.Leu523X - nonsense RB1_01352 - not provided unilateral rb - retinoblastoma DNA - - - 1 unpublished -
?/? g.78155_78157del c.1571_1573del deletion 17_ex - p.Lys524Thr/p.Ala525del - in-frame RB1_01357 - RB-20 bilateral rb germline blood DNA - - Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/+ g.78156del c.1572del deletion 17_ex - p.Ala525Profs*7 - frameshift RB1_00726 germline E3901 - germline nd DNA - not reported Lohmann - Essen 1 unpublished -
?/? g.78158C>G c.1574C>G substitution 17_ex - p.Ala525Gly - missense RB1_00397 - Fam207 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.78158C>G c.1574C>G substitution 17_ex - p.Ala525Gly - missense RB1_00397 unknown rs4151539 - unknown nd DNA - - dbSNP 1 published probably damaging / tolerated
?/+ g.78159del c.1575del deletion 17_ex - p.Phe526Leufs*6 - frameshift RB1_01303 unknown 1013 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.78163del c.1579del deletion 17_ex - - - frameshift RB1_00941 - Fam861 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.78165delT c.1585del Substitution 17_ex - p.Tyr529Thrfs*3 - frameshift RB1_01560 somatic NCI-H835 other cancer somatic nd DNA - - COSMIC - COSM22909 1 published -
?/+ g.78169dup c.1585dup insertion 17_ex - p.Tyr529Leufs*26 - frameshift RB1_00115 unknown E636T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.78169dup c.1585dup insertion 17_ex - p.Tyr529Leufs*26 - frameshift RB1_00115 unknown not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.78169_78176del c.1585_1592del Deletion 17_ex - - - frameshift RB1_01636 germline bilateral_342 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78171C>A c.1587C>A substitution 17_ex - p.Tyr529X - nonsense RB1_00958 - Fam519 unilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78171C>A c.1587C>A substitution 17_ex - p.Tyr529X - nonsense RB1_00958 - Fam514 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78172A>T c.1588A>T substitution 17_ex - p.Lys530X - nonsense RB1_00446 somatic E2902 bilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.78173A>G c.1589A>G substitution 17_ex - p.Lys530Arg - missense RB1_00116 - nidp - germline blood DNA not reported - Cowell et al., 1994 1 published -
?/? g.78174delA c.1590delA Deletion 17_ex - - - unknown RB1_01634 germline bilateral_335 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78176insTT c.1592_1593insTT insertion 17_ex - - - frameshift RB1_00523 - Yu1 bilateral rb germline blood DNA - - Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/+ g.78177delinsTTT c.1593delinsTTT complex 17_ex - p.Ile532Leufs*12 - frameshift RB1_00521 unknown Yu1 bilateral rb germline blood DNA - isolated Choy et al. (2002) Hum Mutat 20(5): 408. 1 published -
?/? g.78179_78180insT c.1595_1596insT Insertion 17_ex - - - unknown RB1_01616 unknown bilateral_160 bilateral rb unknown tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished found as 2nd mutation in tumor
?/+ g.78181del c.1597del Deletion 17_ex - p.Glu533Lysfs*10 - frameshift RB1_01410 unknown E5435 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.78181G>T c.1597G>T substitution 17_ex - p.Glu533X - nonsense RB1_00441 - Fam32 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78181G>T c.1597G>T substitution 17_ex - p.Glu533X - nonsense RB1_00441 - E3196 - - nd DNA - not reported Lohmann - Essen 1 unpublished -
?/+ g.78181G>T c.1597G>T substitution 17_ex - p.Glu533X - nonsense RB1_00441 - Fam802 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/? g.78181G>T c.1597G>T substitution 17_ex - p.Glu533X - nonsense RB1_00441 somatic NCI-H64 other cancer somatic nd DNA - - COSMIC - COSM13141 1 published -
?/? g.78186_78187delTT c.1602_1603delTT Deletion 17_ex - - - frameshift RB1_01710 somatic ng_un_is_tu_209 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78189del c.1605del deletion 17_ex - p.Phe535Leufs*8 - frameshift RB1_01182 unknown 2 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.78197del c.1613del deletion 17_ex - p.Ala538Glufs*5 - frameshift RB1_00551 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78199G>T c.1615G>T substitution 17_ex - p.Glu539X - nonsense RB1_00671 - Fam236 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.78201delA c.1617delA Deletion 17_ex - - - frameshift RB1_01632 germline bilateral_332 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.78202_78219del c.1618_1635del deletion 17_ex - p.Gly540_Glu545del - in-frame RB1_00117 - G384 bilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.78213_78214del c.1629_1630del deletion 17_ex - - - frameshift RB1_00631 - not provided rb germline blood DNA - familial Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78213_78214del c.1629_1630del deletion 17_ex - p.Glu545Asnfs*9 - frameshift RB1_00781 unknown not provided unknown germline nd DNA - familial Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78214del c.1630del deletion 17_ex - p.Arg544Glufs*3 - frameshift RB1_00118 unknown RBF59 bilateral rb germline blood DNA not reported familial Onadim et al., 1993 1 published -
?/? g.78216A>G c.1632A>G Substitution 17_ex - p.Arg544Arg - silent RB1_01785 germline ge_is_notu_35 no cancer germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished mother carries
?/+ g.78217G>T c.1633G>T substitution 17_ex - p.Glu545X - nonsense RB1_00506 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.78217G>T c.1633G>T
    + c.607+1G>C		 substitution 17_ex - p.Glu545X - nonsense RB1_00506 somatic E5196 bilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
+?/? g.78221delT c.1638del Deletion 17 - - - frameshift RB1_01533 germline 112 unilateral rb germline leukocytes DNA unknown familial Argentina: Buenos Aires 1 unpublished -
+?/? g.78221 c.1638delT Deletion 17 - p.M546fsX547 - frameshift RB1_01436 - 112 unilateral rb germline blood DNA unknown familial Argentina: Buenos Aires 1 unpublished -
?/+ g.78225_78231del c.1641_1647del deletion 17_ex - - - frameshift RB1_00445 somatic E3265 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.78227_78228del c.1643_1644del deletion 17_ex - p.Lys548Thrfs*6 - unknown RB1_01298 unknown R15 unilateral rb somatic blood DNA - isolated Bamme et al. (2005) Genet Test. 3 (9):200-211 1 published -
?/+ g.78227_78228dup c.1643_1644dup insertion 17_ex - p.His549Asnfs*3 - frameshift RB1_00119 unknown E987T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/? g.78229C>T c.1645C>T substitution 17_ex - p.His549Tyr - missense RB1_00120 - TS106 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/? g.78229_78300insA c.1645_1646insA Insertion 17_ex - p.His549Thrfs*6 - frameshift RB1_02009 germline #795 bilateral rb germline blood DNA unknown isolated Renieri- Siena 1 unpublished -
?/? g.78233delT c.1649delT Substitution 17_ex - - - unknown RB1_01633 germline bilateral_332 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78237del c.1653del deletion 17_ex - - - frameshift RB1_00389 - G364 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.78237_78238insCG c.1653_1654insCG Insertion 17_ex - - - frameshift RB1_01738 somatic ng_un_is_tu_360 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - GOS563 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E482T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
+/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552* - nonsense RB1_00121 somatic E527T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann et al., 1997 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E468 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E49 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E519 bilateral rb germline blood DNA - isolated Yilmaz et al., 1998 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Nip unilateral rb germline blood DNA not reported isolated Cowell et al., 1996 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - HC7 bilateral rb germline retinoblastoma DNA familial Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - HC38 bilateral rb germline retinoblastoma DNA - familial Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided - - nd DNA - - Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - RB58 bilateral rb germline blood DNA - familial Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam86 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam541 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - JA253 bilateral rb germline blood DNA - isolated Alonso et al. (2001) Hum Mutat 17(5): 412-22. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E2262 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E3982 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E724 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided bilateral rb germline nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E2448 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E1938 bilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
2001 - 2100
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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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