Full data view for gene L3MBTL1

Information The variants shown are described using the NM_032107.4 transcript reference sequence.

64 entries on 1 page. Showing entries 1 - 64.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Allele Count     

Allele Number     

Combined Depth     

Heterozygote     

Homozygous     

Template     

Technique     

Disease     

Reference     

Remarks     

Panel size     

Owner     
./. - c.-11-67G>A r.(=) p.(=) Unknown g.42142132G>A - L3MBTL1_000061 rs187521657 0.001938 1 516 5169 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.15C>T r.(=) p.(=) Unknown g.42142224C>T - L3MBTL1_000062 - 0.001938 1 516 8784 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.71-17T>C r.(=) p.(=) Unknown g.42142461T>C - L3MBTL1_000063 rs114595516 0.003876 2 516 9441 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.295-148G>C r.(=) p.(=) Unknown g.42143127G>C - L3MBTL1_000064 rs139826927 0.003876 2 516 9312 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.393C>A r.(=) p.(=) Unknown g.42143373C>A - L3MBTL1_000001 rs1429201777 0.001938 1 516 7485 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.436+41C>T r.(=) p.(=) Unknown g.42143457C>T - L3MBTL1_000002 rs78935921 0.027 14 516 2636 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.436+49G>A r.(=) p.(=) Unknown g.42143465G>A - L3MBTL1_000003 rs111588606 0.016 8 516 2418 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.436+73C>T r.(=) p.(=) Unknown g.42143489C>T - L3MBTL1_000004 - 0.001946 1 514 1928 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.592G>A r.(?) p.(Val198Ile) Unknown g.42143936G>A - L3MBTL1_000005 rs145435727 0.003876 2 516 6833 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.611C>A r.(?) p.(Ser204*) Unknown g.42143955C>A - L3MBTL1_000006 rs950235582 0.001938 1 516 5979 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.711+64C>T r.(=) p.(=) Unknown g.42144119C>T - L3MBTL1_000007 rs1000375826 0.005814 3 516 3346 3 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.712-41C>T r.(=) p.(=) Unknown g.42144692C>T - L3MBTL1_000008 rs2272964 0.003876 2 516 3704 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.797-61C>G r.(=) p.(=) Unknown g.42157236C>G - L3MBTL1_000009 rs116267955 0.003876 2 516 8093 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.797-60C>T r.(=) p.(=) Unknown g.42157237C>T - L3MBTL1_000010 rs2071972 0.339 175 516 8474 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.797-49A>C r.(=) p.(=) Unknown g.42157248A>C - L3MBTL1_000011 rs2071971 0.003876 2 516 8415 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.797-34C>G r.(=) p.(=) Unknown g.42157263C>G - L3MBTL1_000012 rs375346108 0.001938 1 516 8628 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.885+78C>T r.(=) p.(=) Unknown g.42157463C>T - L3MBTL1_000013 rs138241498 0.00969 5 516 4103 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1125A>G r.(=) p.(=) Unknown g.42159058A>G - L3MBTL1_000014 rs761205320 0.001938 1 516 7083 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1126+62C>T r.(=) p.(=) Unknown g.42159121C>T - L3MBTL1_000015 rs148589682 0.007752 4 516 3158 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1218+71_1218+72insGCCTATGCCACGCCGTGGCCGGAGCATCTGCTGAACGTGCCGGCGGCGAAGATGAGTGCGTTTGCCGACCAGCCCGGC r.(=) p.(=) Unknown g.42159600_42159601insGCCTATGCCACGCCGTGGCCGGAGCATCTGCTGAACGTGCCGGCGGCGAAGATGAGTGCGTTTGCCGACCAGCCCGGC - L3MBTL1_000016 - - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1218+167C>G r.(=) p.(=) Unknown g.42159696C>G - L3MBTL1_000017 rs41303935 0.111 57 514 2094 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1219-64A>G r.(=) p.(=) Unknown g.42161349A>G - L3MBTL1_000018 rs116181513 0.003922 2 510 2797 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1361A>T r.(?) p.(Tyr454Phe) Unknown g.42161555A>T - L3MBTL1_000019 rs201841566 0.001938 1 516 9502 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1371-200A>G r.(=) p.(=) Unknown g.42161782A>G - L3MBTL1_000020 rs75919101 0.005814 3 516 9831 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1371-98G>T r.(=) p.(=) Unknown g.42161884G>T - L3MBTL1_000021 - 0.001938 1 516 9526 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1448-147C>T r.(=) p.(=) Unknown g.42162501C>T - L3MBTL1_000022 rs3752557 0.003876 2 516 3034 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1448-63del r.(=) p.(=) Unknown g.42162585del - L3MBTL1_000023 rs1002878145 0.001938 1 516 9526 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1502C>T r.(?) p.(Ala501Val) Unknown g.42162702C>T - L3MBTL1_000024 - 0.001938 1 516 7739 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1533+87T>C r.(=) p.(=) Unknown g.42162820T>C - L3MBTL1_000025 rs74949401 0.001961 1 510 2576 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1641A>G r.(?) p.(Ile547Met) Unknown g.42163031A>G - L3MBTL1_000026 rs6017104 0.003876 2 516 8818 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1644+7C>T r.(=) p.(=) Unknown g.42163041C>T - L3MBTL1_000027 rs150873776 0.012 6 516 8937 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1644+149G>A r.(=) p.(=) Unknown g.42163183G>A - L3MBTL1_000028 rs763636407 0.001938 1 516 7050 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1645-60C>A r.(=) p.(=) Unknown g.42163408C>A - L3MBTL1_000029 rs62224514 0.035 18 516 3195 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1690G>A r.(?) p.(Ala564Thr) Unknown g.42163513G>A - L3MBTL1_000030 rs766968999 0.001938 1 516 7785 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1759+12T>A r.(=) p.(=) Unknown g.42163594T>A - L3MBTL1_000031 rs755493298 0.001938 1 516 7802 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1759+186C>G r.(=) p.(=) Unknown g.42163768C>G - L3MBTL1_000032 rs2071968 0.301 150 498 1312 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1759+203C>T r.(=) p.(=) Unknown g.42163785C>T - L3MBTL1_000033 rs1439893493 0.002016 1 496 1149 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1760-60G>A r.(=) p.(=) Unknown g.42164417G>A - L3MBTL1_000034 rs6103370 0.005814 3 516 1629 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1760-7C>T r.(=) p.(=) Unknown g.42164470C>T - L3MBTL1_000035 rs201619816 0.001938 1 516 3161 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1811A>G r.(?) p.(Tyr604Cys) Unknown g.42164528A>G - L3MBTL1_000036 rs762889335 0.001938 1 516 5850 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1831A>G r.(?) p.(Arg611Gly) Unknown g.42164548A>G - L3MBTL1_000037 rs201339937 0.001938 1 516 6478 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1848C>T r.(=) p.(=) Unknown g.42164565C>T - L3MBTL1_000038 - 0.001938 1 516 6674 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1860-80C>T r.(=) p.(=) Unknown g.42164657C>T - L3MBTL1_000039 rs549635911 0.001938 1 516 6736 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1860-15T>C r.(=) p.(=) Unknown g.42164722T>C - L3MBTL1_000040 rs3746528 0.12 62 516 8007 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1914A>C r.(=) p.(=) Unknown g.42164791A>C - L3MBTL1_000041 rs3746527 0.005814 3 516 8955 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1952G>A r.(?) p.(Arg651Lys) Unknown g.42164829G>A - L3MBTL1_000042 rs35845394 0.001938 1 516 8867 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2002C>T r.(?) p.(Arg668Cys) Unknown g.42164879C>T - L3MBTL1_000043 rs375735175 0.003876 2 516 9048 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2058-42G>C r.(=) p.(=) Unknown g.42165007G>C - L3MBTL1_000044 - 0.001938 1 516 8363 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2063G>A r.(?) p.(Gly688Glu) Unknown g.42165054G>A - L3MBTL1_000045 - 0.001938 1 516 7568 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2091G>A r.(=) p.(=) Unknown g.42165082G>A - L3MBTL1_000046 rs375902103 0.001938 1 516 6736 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2107+104A>G r.(=) p.(=) Unknown g.42165202A>G - L3MBTL1_000047 rs549077785 0.003876 2 516 2590 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2196G>A r.(=) p.(=) Unknown g.42168879G>A - L3MBTL1_000048 rs117358971 0.003876 2 516 9248 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2213C>G r.(?) p.(Pro738Arg) Unknown g.42168896C>G - L3MBTL1_000049 rs976632035 0.001938 1 516 9238 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2265+83G>A r.(=) p.(=) Unknown g.42169031G>A - L3MBTL1_000050 rs146745459 0.005814 3 516 4813 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2265+92G>A r.(=) p.(=) Unknown g.42169040G>A - L3MBTL1_000051 rs60219095 0.012 6 516 4645 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2266-40G>C r.(=) p.(=) Unknown g.42169353G>C - L3MBTL1_000052 rs183461317 0.012 6 516 6383 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2329-17C>T r.(=) p.(=) Unknown g.42169557C>T - L3MBTL1_000053 rs140386832 0.005814 3 516 8966 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2329-10G>A r.(=) p.(=) Unknown g.42169564G>A - L3MBTL1_000054 rs187744984 0.001938 1 516 9053 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2329-3C>A r.spl? p.? Unknown g.42169571C>A - L3MBTL1_000055 - 0.001938 1 516 9143 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2344G>A r.(?) p.(Val782Met) Unknown g.42169589G>A - L3MBTL1_000056 rs76363655 0.007752 4 516 9340 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2368C>G r.(?) p.(Leu790Val) Unknown g.42169613C>G - L3MBTL1_000057 rs61736753 0.005814 3 516 9480 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2480A>G r.(?) p.(His827Arg) Unknown g.42169725A>G - L3MBTL1_000058 rs6030948 0.003876 2 516 9403 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*86A>G r.(=) p.(=) Unknown g.42169854A>G - L3MBTL1_000059 rs117851581 0.012 6 514 2278 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*117G>A r.(=) p.(=) Unknown g.42169885G>A - L3MBTL1_000060 rs112959405 0.002016 1 496 1631 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend