LOVD - Variant listings for RB1

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1748 entries
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g-position Hide g-position column Descending
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cDNA change   Descending
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Type Hide Type column 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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Protein Hide Protein column Descending
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RBWiki Hide RBWiki column Descending
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expected consequence type Hide expected consequence type column Descending
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DB-ID Hide DB-ID column Descending
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originated_in Hide originated_in column Descending
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g.195insCTGATA c.-1865_1864insCTGATA complex 00_up - variant - variant RB1_00991 -
g.198del c.-1862del deletion 00_up - variant - variant RB1_00992 -
g.371C>A c.-1689C>A substitution 00_up - variant - variant RB1_00993 -
g.605T>C c.-1455T>C
  (Reported 2 times)
substitution 00_up - variant - variant RB1_00994 -
g.914C>T c.-1146C>T substitution 00_up - variant - variant RB1_00995 -
g.1023G>A c.-1037G>A substitution 00_up - variant - variant RB1_00996 -
g.1219C>T c.-841C>T substitution 00_up - variant - variant RB1_00997 -
g.1282C>T c.-778C>T substitution 00_up - variant - variant RB1_00998 -
g.1328A>C c.-732A>C substitution 00_up - variant - variant RB1_00999 -
g.1409A>G c.-651A>G substitution 00_up - variant - variant RB1_01000 -
g.1565T>C c.-495T>C
  (Reported 2 times)
substitution 00_up - - - - RB1_01350 -
g.1601C>T c.-459C>T substitution 00_up - variant - variant RB1_01001 -
g.1718C>T c.-342C>T substitution 00_up - variant - variant RB1_00953 -
g.1766T>C c.-294T>C Substitution 00_up regulatory - - unknown RB1_01670 germline
g.1772C>T c.-288C>T Substitution 00_up regulatory - - unknown RB1_01855 unknown
g.1811_1913del c.-249_147del deletion 00_up - - - - RB1_01304 -
g.1848G>A c.-212G>A substitution 00_up - - - promoter RB1_00926 -
g.1854_1871del c.-206_-189del deletion 00_up - - - - RB1_00927 -
g.1862G>A c.-198G>A
  (Reported 5 times)
substitution 00_up - SP1-recognition - promoter RB1_00018 -
g.1863G>A c.-197G>A
  (Reported 2 times)
substitution 00_up - - - promoter RB1_00928 -
g.1863_1864delinsTT c.-197_-196delinsTT complex 00_up - SP1-recogn - promoter RB1_00470 germline
g.1867T>A c.-193T>A substitution 00_up - promotor - promoter RB1_01326 -
g.1867T>G c.-193T>G substitution 00_up - - - promoter RB1_01294 -
g.1871G>T c.-189G>T
  (Reported 2 times)
substitution 00_up - ATF-recognition - promoter RB1_00017 -
g.1910G>C c.-150G>C substitution 00_up - SP1-recognition - promoter RB1_00022 -
g.2056C>G c.-4C>G substitution 00_up - - - - RB1_01370 -
g.2060A>G c.1A>G
  (Reported 2 times)
Substitution 01_ex - p.Met1Val Met1Val unknown RB1_01443 -
g.2062G>C c.3G>C Substitution 01_ex - p.Met1Ile [Met1Ile] unknown RB1_01455 -
- c.14_24del Deletion 01_ex - p.Thr5Asnfs*22 - frameshift RB1_01961 germline
g.2077_2095del c.18_36del deletion 01_ex - - - frameshift RB1_00834 -
g.2078del c.19C>T Substitution 01_ex - p.Arg7X - nonsense RB1_01672 germline
g.2078del c.19del deletion 01_ex - - - frameshift RB1_01208 -
g.2078delCGAinsGG c.19delCGAinsGG Other/Complex 01_ex - - - frameshift RB1_01667 germline
g.2078dup c.19dup
  (Reported 6 times)
insertion 01_ex - - - frameshift RB1_00449 -
g.2078_2080delinsGG c.19_21delinsGG
  (Reported 2 times)
complex 01_ex - - - frameshift RB1_00839 -
g.2079dup c.20dup
  (Reported 2 times)
insertion 01_ex - p.(Thr9Asnfs*22) - frameshift RB1_00340 germline
g.2080insG c.21insG Insertion 01_ex - - - frameshift RB1_01583 germline
g.2083_2114del c.24_55del deletion 01_ex - - - frameshift RB1_00858 -
g.2090_2092dupGCC c.31_33dupGCC Duplication 01_ex - p.Ala11dup Ala11dup unknown RB1_01447 -
g.2091_2122del c.32_63del
  (Reported 2 times)
Deletion 01_ex - p.(Ala11Glyfs*9) - frameshift RB1_00724 somatic
g.2099dup c.40dup Insertion 1_ex - p.(Ala14Glyfs*17) - frameshift RB1_02017 germline
g.2101C>T c.42C>T
  (Reported 4 times)
substitution 01_ex - p.Ala14Ala Ala14Ala variant RB1_00023 -
g.2102_2124del c.43_65del deletion 01_ex - - - - RB1_01336 -
g.2104ins23 c.45_46ins23 insertion 01_ex - - - - RB1_00864 -
g.2104_2112del c.45_53del
  (Reported 7 times)
deletion 01_ex - p.Ala16_Ala18del Ala16_Ala18del in-frame RB1_00957 -
g.2104_2129del c.45_70del deletion 01_ex - p.Glu19Profs*3 - frameshift RB1_00318 germline
g.2104_2032del c.45_73del Deletion 1_ex - p.(Ala18Profs*3) - unknown RB1_02019 germline
g.2104_2135del c.45_76del Deletion 01_ex - p.Ala17Profs*3 - frameshift RB1_01409 unknown
g.2104_2138dup c.45_78dup insertion 01_ex - p.Pro27Cysfs*15 - frameshift RB1_01324 unknown
g.2104_2139del c.45_79del
  (Reported 2 times)
deletion 01_ex - - - frameshift RB1_00422 germline
g.2104_2038dup c.45_79dup Insertion 1_ex - p.(Pro27Leufs*50) - unknown RB1_02018 germline
- c.46_65dup Duplication 01_ex - p.Pro25Argfs*47 - frameshift RB1_01962 germline
g.2106_2125del c.47_66del deletion 01_ex - - - frameshift RB1_00563 -
g.2111_2139dup c.52_80dup Duplication 01_ex - - - unknown RB1_01775 germline
g.2113_2135del c.54_76del Deletion 01_ex - p.(Glu19Alafs*4) - frameshift RB1_01858 somatic
g.2113_2135dup c.54_76dup Insertion 1_ex - p.(Pro26Argfs*47) - unknown RB1_02020 germline
g.2113_2138del c.54_79del deletion 01_ex - p.(Glu19Profs*3) - frameshift RB1_00360 germline
g.2114del c.55del deletion 01_ex - p.Glu19Asnfs*46 - frameshift RB1_01209 unknown
g.2117delC c.58delC Deletion 01_ex - - - frameshift RB1_01666 germline
g.2118C>T c.59C>T
  (Reported 3 times)
substitution 01_ex - p.Pro20Leu Pro20Leu missense RB1_00493 -
g.2118_2130del c.59_71del Deletion 01_ex - - - unknown RB1_01587 germline
g.2120_2133 c.61_74del Deletion 01_ex - p.Pro21Alafs*5 - frameshift RB1_01518 somatic
g.2121del c.62del
  (Reported 2 times)
deletion 01_ex - p.Pro21Argfs*43 - frameshift RB1_00646 unknown
- c.62dup Duplication 01_ex - p.Ala22Glyfs*9 - frameshift RB1_01963 germline
g.2121_2122insG c.64dup Insertion/Deletion 01_ex - p.Ala22Glyfs*9 - unknown RB1_01517 unknown
g.2124C>A c.65C>A substitution 01_ex - p.Ala22Glu Ala22Glu unknown RB1_01377 -
g.2124del c.65del deletion 01_ex - p.Ala22Aspfs*43 - frameshift RB1_01362 unknown
g.2124delinsGA c.65delinsGA complex 01_ex - - - nonsense RB1_00463 germline
g.2124_2125delins20 c.65_66ins20 Other/Complex 01_ex - - - unknown RB1_01586 germline
g.2126_2163del c.67_104del deletion 01_ex - - - frameshift RB1_00448 germline
g.2127C>T c.68C>T Substitution 01_ex - p.Pro23Leu [Pro23Leu] unknown RB1_01456 -
g.2127_2132del c.68_73del deletion 01_ex - p.Pro23_Pro24del Pro23_Pro24del in-frame RB1_00621 -
g.2131_2137del c.72_78del deletion 01_ex - p.(Pro26Leufs*37) - frameshift RB1_00024 germline
g.2137_2138ins23 c.78_79ins23 Insertion 01_ex - - - frameshift RB1_01673 germline
g.2137__2139del c.78_80del Deletion 01_ex - p.Pro29del Pro29del unknown RB1_01448 -
g.2142del c.83del deletion 01_ex - - - - RB1_01210 -
g.2142dupC c.83dupC Duplication 01_ex - - - frameshift RB1_01584 somatic
g.2143dup c.84dup insertion 01_ex - - - frameshift RB1_00648 -
g.2147G>T c.88G>T
  (Reported 3 times)
substitution 01_ex - p.Glu30X - nonsense RB1_00025 -
g.2148delA c.89delA Deletion 01_ex - - - frameshift RB1_01671 germline
g.2150G>T c.91G>T Substitution 01_ex Stop gained p.Glu31X - unknown RB1_01492 somatic
g.2157dup c.98dup insertion 01_ex - p.Glu34Argfs*15 - unknown RB1_01201 unknown
g.2159G>T c.100G>T Substitution 01_ex - p.Glu34X - nonsense RB1_01411 germline
g.2162C>T c.103C>T
  (Reported 3 times)
substitution 01_ex - p.Gln35X - nonsense RB1_00319 -
g.2168_2171delinsCCAGA c.109_112delinsCCAGA Other/Complex 01_ex - - - frameshift RB1_01585 germline
g.2168_2175del c.109_116del deletion 01_ex - p.Ser37Glyfs*9 - frameshift RB1_00799 unknown
g.2169dup c.110dup insertion 01_ex - - - frameshift RB1_00492 -
g.2175delC c.115delC Deletion 01_ex - - - unknown RB1_01460 -
g.2174delC c.116del Deletion 01_ex - p.Pro39Argfs*26 - frameshift RB1_01519 somatic
g.2177G>T c.118G>T substitution 01_ex - p.Glu40X - nonsense RB1_01141 germline
g.2179_2183dup c.120_124dup
  (Reported 2 times)
insertion 01_ex - p.Leu42Argfs*25 - frameshift RB1_01202 unknown
g.2181ins10 c.122ins10 Insertion 01_ex - - - frameshift RB1_01712 somatic
g.2182_2195delinsGCC c.123_136delinsGCC Insertion/Deletion 1_ex - p.(Asp41Glufs*4) - frameshift RB1_02021 germline
g.2183delC c.124del Deletion 01_ex - p.Leu42Cysfs*23 - unknown RB1_01520 somatic
g.2184insGGACC c.125insGGACC Insertion 01_ex - p.Pro43X - unknown RB1_01462 unknown
g.2187dup c.128dup insertion 01_ex - p.Leu44Serfs*5 - frameshift RB1_00490 unknown
g.2189del c.130del deletion 01_ex - p.Leu44Serfs*21 - frameshift RB1_01355 unknown
g.2196G>A c.137G>A
  (Reported 7 times)
substitution 01_ex - p.Arg46Lys/splice Arg46Lys/splice missense-splice RB1_00372 -
g.2196G>C c.137G>C
  (Reported 3 times)
substitution 01_ex - p.Arg46Thr/splice Arg46Thr/splice missense-splice RB1_00620 -
g.2197G>A c.137+1G>A substitution 01_in altered splicing - - splice RB1_01250 -
1 - 100
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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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