Full data view for gene STXBP1

Information The variants shown are described using the NM_003165.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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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.-97G>C r.(=) p.(=) Unknown g.130374586G>C - STXBP1_000001 rs573050142 0.001938 1 516 5639 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-89G>A r.(=) p.(=) Unknown g.130374594G>A - STXBP1_000002 rs541877421 0.003876 2 516 6174 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.38-3T>C r.spl? p.? Unknown g.130413879T>C - STXBP1_000003 rs138763389 0.017 9 516 4381 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.87+159T>C r.(=) p.(=) Unknown g.130414090T>C - STXBP1_000004 rs72769835 0.014 7 516 2691 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.88-169T>C r.(=) p.(=) Unknown g.130415825T>C - STXBP1_000005 rs114295222 0.001938 1 516 2181 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.88-53C>T r.(=) p.(=) Unknown g.130415941C>T - STXBP1_000006 rs57153442 0.031 16 516 7157 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.170-202T>A r.(=) p.(=) Unknown g.130420452T>A - STXBP1_000007 rs7857988 0.02 10 510 1754 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.170-48G>A r.(=) p.(=) Unknown g.130420606G>A - STXBP1_000008 rs182862523 0.003876 2 516 8521 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.246+83G>T r.(=) p.(=) Unknown g.130420813G>T - STXBP1_000009 rs2287116 0.141 73 516 4820 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.247-181G>A r.(=) p.(=) Unknown g.130422128G>A - STXBP1_000010 rs17849177 0.03 15 500 1191 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.325+8C>T r.(=) p.(=) Unknown g.130422395C>T - STXBP1_000011 rs117372398 0.003876 2 516 6734 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.326-109del r.(=) p.(=) Unknown g.130423272del - STXBP1_000012 rs372510099 0.003876 2 516 6734 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.326-109dup r.(=) p.(=) Unknown g.130423272dup - STXBP1_000013 rs372510099 0.003876 2 516 6734 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.326-12T>C r.(=) p.(=) Unknown g.130423369T>C - STXBP1_000014 rs372027286 0.001938 1 516 8364 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.430-139T>A r.(=) p.(=) Unknown g.130425345T>A - STXBP1_000015 rs139895327 0.019 10 516 6879 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.430-138G>A r.(=) p.(=) Unknown g.130425346G>A - STXBP1_000016 rs145639237 0.007752 4 516 6921 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.430-121A>G r.(=) p.(=) Unknown g.130425363A>G - STXBP1_000017 rs534313600 0.001938 1 516 7331 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.579-112A>G r.(=) p.(=) Unknown g.130427414A>G - STXBP1_000018 rs17849179 0.037 19 516 2583 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.579-37C>G r.(=) p.(=) Unknown g.130427489C>G - STXBP1_000019 rs113138293 0.005814 3 516 6682 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.663+17C>T r.(=) p.(=) Unknown g.130427627C>T - STXBP1_000020 rs140247913 0.003876 2 516 9071 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.663+43G>A r.(=) p.(=) Unknown g.130427653G>A - STXBP1_000021 rs767792515 0.001938 1 516 7866 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.663+117del r.(=) p.(=) Unknown g.130427727del - STXBP1_000022 rs534913546 0.001938 1 516 7866 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.794+42C>T r.(=) p.(=) Unknown g.130428617C>T - STXBP1_000023 rs17849182 0.001938 1 516 3464 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.795-156T>A r.(=) p.(=) Unknown g.130430203T>A - STXBP1_000024 rs2241168 0.001938 1 516 5528 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.795-41T>C r.(=) p.(=) Unknown g.130430318T>C - STXBP1_000025 rs186338327 0.00969 5 516 8778 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.795-38A>G r.(=) p.(=) Unknown g.130430321A>G - STXBP1_000026 rs147069788 0.001938 1 516 8788 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.846C>T r.(=) p.(=) Unknown g.130430410C>T - STXBP1_000027 rs58889246 0.031 16 516 8192 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.963+94G>A r.(=) p.(=) Unknown g.130432331G>A - STXBP1_000028 rs78541277 0.016 8 516 2543 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1029+124A>G r.(=) p.(=) Unknown g.130434519A>G - STXBP1_000029 rs957037914 0.001938 1 516 1578 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1029+147G>C r.(=) p.(=) Unknown g.130434542G>C - STXBP1_000030 rs115175804 0.013 6 472 1005 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1030-65C>G r.(=) p.(=) Unknown g.130435395C>G - STXBP1_000031 rs58905669 0.017 9 516 7897 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1356C>T r.(=) p.(=) Unknown g.130439029C>T - STXBP1_000032 rs35099393 0.005814 3 516 9491 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1359+56T>C r.(=) p.(=) Unknown g.130439088T>C - STXBP1_000033 - 0.001938 1 516 9484 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1359+128G>A r.(=) p.(=) Unknown g.130439160G>A - STXBP1_000034 - 0.001938 1 516 7763 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1359+186G>A r.(=) p.(=) Unknown g.130439218G>A - STXBP1_000035 rs539961259 0.001946 1 514 3520 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1360-52G>A r.(=) p.(=) Unknown g.130440658G>A - STXBP1_000036 rs181397343 0.003876 2 516 7491 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1360-44G>C r.(=) p.(=) Unknown g.130440666G>C - STXBP1_000037 rs941895945 0.001938 1 516 7367 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1440G>A r.(=) p.(=) Unknown g.130440790G>A - STXBP1_000038 rs770793946 0.001938 1 516 6569 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1461+80C>A r.(=) p.(=) Unknown g.130440891C>A - STXBP1_000039 rs73601663 0.005859 3 512 2798 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1462-199G>C r.(=) p.(=) Unknown g.130442237G>C - STXBP1_000040 rs756487086 0.001938 1 516 2056 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1462-113C>G r.(=) p.(=) Unknown g.130442323C>G - STXBP1_000041 rs17849184 0.001938 1 516 5736 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1462-94G>T r.(=) p.(=) Unknown g.130442342G>T - STXBP1_000042 rs79735301 0.001938 1 516 6681 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1547+63G>A r.(=) p.(=) Unknown g.130442584G>A - STXBP1_000043 rs138455103 0.003891 2 514 2755 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1548-24_1548-23del r.(=) p.(=) Unknown g.130444661_130444662del - STXBP1_000044 rs145978705 0.003891 2 514 2755 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1548-10_1548-7del r.spl? p.? Unknown g.130444675_130444678del - STXBP1_000045 rs1214232976 0.001938 1 516 7367 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1680C>T r.(=) p.(=) Unknown g.130444817C>T - STXBP1_000046 rs201809337 0.001938 1 516 4100 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1702+31C>T r.(=) p.(=) Unknown g.130444870C>T - STXBP1_000047 rs200592361 0.003953 2 506 1994 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1702+39C>T r.(=) p.(=) Unknown g.130444878C>T - STXBP1_000048 rs17849185 0.001976 1 506 1769 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1702+71G>T r.(=) p.(=) Unknown g.130444910G>T - STXBP1_000049 rs17849186 0.013 6 480 1122 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1703-154A>C r.(=) p.(=) Unknown g.130446493A>C - STXBP1_000051 rs4836575 0.007937 4 504 2065 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1703-154A>G r.(=) p.(=) Unknown g.130446493A>G - STXBP1_000050 rs4836575 0.621 313 504 2065 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1703-118_1703-117del r.(=) p.(=) Unknown g.130446529_130446530del - STXBP1_000052 rs566101282 0.007937 4 504 2065 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1804A>G r.(?) p.(Met602Val) Unknown g.130446748A>G - STXBP1_000053 rs141208884 0.001938 1 516 3908 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*16+64G>A r.(=) p.(=) Unknown g.130446836G>A - STXBP1_000054 rs117911387 0.02 10 496 1193 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*17-105G>A r.(=) p.(=) Unknown g.130452949G>A - STXBP1_000055 rs187921257 0.005814 3 516 1715 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*17-77T>C r.(=) p.(=) Unknown g.130452977T>C - STXBP1_000056 rs57528423 0.031 16 516 2589 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend