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LOVD - Variant listings for RB1

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1753 entries
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g-position Hide g-position column Descending
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cDNA change   Descending
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Exon Hide Exon column Descending
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RNA change Hide RNA change column Descending
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RBWiki Hide RBWiki column Descending
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DB-ID Hide DB-ID column Descending
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g.78119del c.1535del
  (Reported 3 times)		 deletion 17_ex - p.Leu512Cysfs*7 - frameshift RB1_00113 unknown
g.78119_78120del c.1535_1536del
  (Reported 2 times)		 deletion 17_ex - p.(Leu512Phefs*10) - frameshift RB1_00756 unknown
g.78120delG c.1536delG Deletion 17_ex - - - frameshift RB1_01630 germline
g.78120_78121del c.1536_1537del deletion 17_ex - p.Leu512Phefs*10 - frameshift RB1_00782 unknown
g.78121del c.1537del deletion 17_ex - p.Ser513Leufs*6 - frameshift RB1_00822 unknown
g.78121_78122del c.1538_1539del Deletion 17_ex - p.Ser513Phefs*9 - frameshift RB1_01402 unknown
g.78124T>C c.1540T>C Substitution 17_ex - p.Phe514Leu - unknown RB1_01772 germline
g.78128C>T c.1544C>T Substitution 17_ex - p.Pro515Leu - unknown RB1_01572 somatic
g.78128delC c.1544delC Deletion 17_ex - - - frameshift RB1_01740 somatic
g.78131G>A c.1547G>A substitution 17_ex - p.Trp516* - nonsense RB1_00481 germline
g.78135_78137del c.1551_1553del Deletion 17_ex - p.(Ile517_Leu518delinsMet) - unknown RB1_02073 germline
g.78141del c.1557del deletion 17_ex - p.Asn519Lysfs*5 - frameshift RB1_00780 unknown
g.78141insATTTAAT c.1557_1558insATTTAAT insertion 17_ex - p.Val520Ilefs*2 - frameshift RB1_00114 unknown
g.78152T>G c.1568T>G substitution 17_ex - p.Leu523X - nonsense RB1_01352 -
g.78155_78157del c.1571_1573del deletion 17_ex - p.Lys524Thr/p.Ala525del - in-frame RB1_01357 -
g.78156del c.1572del deletion 17_ex - p.Ala525Profs*7 - frameshift RB1_00726 germline
g.78158C>G c.1574C>G
  (Reported 2 times)		 substitution 17_ex - p.Ala525Gly - missense RB1_00397 -
g.78159del c.1575del deletion 17_ex - p.Phe526Leufs*6 - frameshift RB1_01303 unknown
g.78163del c.1579del deletion 17_ex - - - frameshift RB1_00941 -
g.78165delT c.1585del Substitution 17_ex - p.Tyr529Thrfs*3 - frameshift RB1_01560 somatic
g.78169dup c.1585dup
  (Reported 2 times)		 insertion 17_ex - p.Tyr529Leufs*26 - frameshift RB1_00115 unknown
g.78169_78176del c.1585_1592del Deletion 17_ex - - - frameshift RB1_01636 germline
g.78171C>A c.1587C>A
  (Reported 2 times)		 substitution 17_ex - p.Tyr529X - nonsense RB1_00958 -
g.78172A>T c.1588A>T substitution 17_ex - p.Lys530X - nonsense RB1_00446 somatic
g.78173A>G c.1589A>G substitution 17_ex - p.Lys530Arg - missense RB1_00116 -
g.78174delA c.1590delA Deletion 17_ex - - - unknown RB1_01634 germline
g.78176insTT c.1592_1593insTT insertion 17_ex - - - frameshift RB1_00523 -
g.78177delinsTTT c.1593delinsTTT complex 17_ex - p.Ile532Leufs*12 - frameshift RB1_00521 unknown
g.78179_78180insT c.1595_1596insT Insertion 17_ex - - - unknown RB1_01616 unknown
g.78181del c.1597del Deletion 17_ex - p.Glu533Lysfs*10 - frameshift RB1_01410 unknown
g.78181G>T c.1597G>T
  (Reported 4 times)		 substitution 17_ex - p.Glu533X - nonsense RB1_00441 -
g.78186_78187delTT c.1602_1603delTT Deletion 17_ex - - - frameshift RB1_01710 somatic
g.78189del c.1605del deletion 17_ex - p.Phe535Leufs*8 - frameshift RB1_01182 unknown
g.78197del c.1613del deletion 17_ex - p.Ala538Glufs*5 - frameshift RB1_00551 unknown
g.78199G>T c.1615G>T substitution 17_ex - p.Glu539X - nonsense RB1_00671 -
g.78201delA c.1617delA Deletion 17_ex - - - frameshift RB1_01632 germline
g.78202_78219del c.1618_1635del deletion 17_ex - p.Gly540_Glu545del - in-frame RB1_00117 -
g.78213_78214del c.1629_1630del
  (Reported 2 times)		 deletion 17_ex - - - frameshift RB1_00631 -
g.78214del c.1630del deletion 17_ex - p.Arg544Glufs*3 - frameshift RB1_00118 unknown
g.78216A>G c.1632A>G Substitution 17_ex - p.Arg544Arg - silent RB1_01785 germline
g.78217G>T c.1633G>T
  (Reported 2 times)		 substitution 17_ex - p.Glu545X - nonsense RB1_00506 -
g.78221delT c.1638del Deletion 17 - - - frameshift RB1_01533 germline
g.78221 c.1638delT Deletion 17 - p.M546fsX547 - frameshift RB1_01436 -
g.78225_78231del c.1641_1647del deletion 17_ex - - - frameshift RB1_00445 somatic
g.78227_78228del c.1643_1644del deletion 17_ex - p.Lys548Thrfs*6 - unknown RB1_01298 unknown
g.78227_78228dup c.1643_1644dup insertion 17_ex - p.His549Asnfs*3 - frameshift RB1_00119 unknown
g.78229C>T c.1645C>T substitution 17_ex - p.His549Tyr - missense RB1_00120 -
g.78229_78300insA c.1645_1646insA Insertion 17_ex - p.His549Thrfs*6 - frameshift RB1_02009 germline
g.78233delT c.1649delT Substitution 17_ex - - - unknown RB1_01633 germline
g.78237del c.1653del deletion 17_ex - - - frameshift RB1_00389 -
g.78237_78238insCG c.1653_1654insCG Insertion 17_ex - - - frameshift RB1_01738 somatic
g.78238C>T c.1654C>T
  (Reported 70 times)		 substitution 17_ex - p.Arg552X - nonsense RB1_00121 -
g.78243T>A c.1659T>A substitution 17_ex - p.Cys553X - nonsense RB1_00122 -
g.78243_7244del c.1659_1660del Deletion 17_ex - p.(Cys553*) - nonsense RB1_02052 somatic
g.78240_78155del c.1659_1674del Deletion 17_ex - p.Cys553Trpfs*53 - unknown RB1_01561 somatic
g.78244G>T c.1660G>T
  (Reported 2 times)		 substitution 17_ex - p.Glu554X - nonsense RB1_00123 -
- c.1663_1670delinsTTC Insertion/Deletion 17_ex - - - frameshift RB1_01955 somatic
g.78250C>T c.1666C>T
  (Reported 49 times)		 substitution 17_ex - p.Arg556X - nonsense RB1_00124 -
g.78253del c.1669del deletion 17_ex - p.Ile557Serfs*54 - frameshift RB1_01227 unknown
g.78162T>C c.1678T>C Substitution 17_ex - - - unknown RB1_01686 germline
- c.1683dup Duplication 17_ex - p.Ala562Cysfs*10 - frameshift RB1_01982 germline
g.78268G>C c.1684G>C Substitution 17_ex - p.Ala562Pro - unknown RB1_01631 germline
g.78269C>A c.1685C>A Substitution 17_ex - p.(Ala562Glu) - missense RB1_01880 unknown
g.78271delT c.1687delT Deletion 17_ex - - - unknown RB1_01635 germline
g.78271G>C c.1687T>C substitution 17_ex - p.Trp563Arg - missense RB1_00310 unknown
g.78272G>A c.1688G>A
  (Reported 4 times)		 substitution 17_ex - p.Trp563X - nonsense RB1_00290 -
g.78272G>C c.1688G>C
  (Reported 2 times)		 substitution 17_ex - p.Trp563Ser - missense RB1_00268 unknown
g.78272G>T c.1688G>T substitution 17_ex - p.Trp563Leu - - RB1_01343 -
g.78273G>A c.1689G>A
  (Reported 2 times)		 Substitution 17_ex - p.Trp563X - nonsense RB1_01512 somatic
g.78273G>C c.1689G>C Substitution 17_ex - p.(Trp563Cys) - missense RB1_01881 unknown
g.78273G>T c.1689G>T
  (Reported 2 times)		 substitution 17_ex - p.Trp563Cys - - RB1_01271 -
g.78274_78306del c.1690_1695+27del deletion 17_ex - - - frameshift RB1_00970 -
- c.1693_1694dup Insertion 17_ex - p.(Asp566Glnfs*46) - frameshift RB1_01872 germline
g.78277_78280 c.1693_1695+1del Substitution 17_ex - - - unknown RB1_01629 germline
g.78277_78290del c.1693_1695+11del deletion 17_ex altered splicing - - splice RB1_00823 -
g.78280G>A c.1695+1G>A Substitution 17_in Splice site - - splice RB1_01577 germline
g.78280G>T c.1695+1G>T substitution 17_in altered splicing - - splice RB1_01263 -
g.78281T>A c.1695+2T>A substitution 17_in altered splicing - - splice RB1_01147 -
g.78281T>C c.1695+2T>C substitution 17_in altered splicing - - splice RB1_00211 -
g.78281T>G c.1695+2T>G substitution 17_in altered splicing - - splice RB1_01247 -
g.78282A>C c.1695+3A>C substitution 17_in altered splicing - - splice RB1_00208 -
g.78282A>T c.1695+3A>T substitution 17_in altered splicing - - splice RB1_01321 -
g.78284G>A c.1695+5G>A
  (Reported 2 times)		 substitution 17_in altered splicing - - splice RB1_00911 -
g.78284G>C c.1695+5G>C
  (Reported 2 times)		 substitution 17_in altered splicing - - splice RB1_00329 -
g.78285T>C c.1695+6T>C
  (Reported 3 times)		 substitution 17_in altered splicing - - splice RB1_00388 -
g.78285T>G c.1695+6T>G substitution 17_in altered splicing - - splice RB1_00210 -
g.78360insAA c.1695+81_1695+82insAA insertion 17_in - variant - variant RB1_01114 -
g.78361ins c.1695+82
  (Reported 2 times)		 insertion 17_in - variant - variant RB1_01065 -
g.78376T>A c.1695+97T>A substitution 17_in - variant - variant RB1_01115 -
g.78534_78535dup c.1695+255_1695+256dup deletion 17_in - variant - variant RB1_00608 -
g.94026A>G c.1695+15747A>G substitution 17_in - variant - variant RB1_01085 -
g.99362C>T c.1695+21083C>T substitution 17_in - variant - variant RB1_01076 -
g.99426C>T c.1695+21147>CT substitution 17_in - variant - variant RB1_00518 -
g.99426C>T c.1695+21147C>T substitution 17_in - variant - variant RB1_00988 -
g.111765C>G c.1695+33486C>G
  (Reported 2 times)		 substitution 17_in - variant - variant RB1_01069 -
g.120356A>G c.1696-29642A>G
  (Reported 2 times)		 substitution 17_in - variant - variant RB1_01075 -
g.135136A>G c.1696-14862A>G
  (Reported 2 times)		 substitution 17_in - variant - variant RB1_01070 -
g.149721T>C c.1696-277T>C substitution 17_in - variant - variant RB1_01080 -
g.149916A>G c.1696-82A>G substitution 17_in - variant - variant RB1_01073 -
g.149931A>G c.1696-67A>G substitution 17_in - variant - variant RB1_01067 -
1001 - 1100
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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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