Full data view for gene PFKM

Information The variants shown are described using the NM_000289.5 transcript reference sequence.

66 entries on 1 page. Showing entries 1 - 66.
Legend  

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.-1049T>C r.(=) p.(=) Unknown g.48512149T>C - PFKM_000001 rs1032087220 0.001938 1 516 2551 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-913C>A r.(=) p.(=) Unknown g.48512285C>A - PFKM_000002 rs4760682 0.824 425 516 9388 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-867C>T r.(=) p.(=) Unknown g.48512331C>T - PFKM_000003 rs11168414 0.211 109 516 8866 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-803_-802del r.(=) p.(=) Unknown g.48512395_48512396del - PFKM_000004 rs1394568994 0.001938 1 516 2551 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-677A>C r.(=) p.(=) Unknown g.48512521A>C - PFKM_000005 rs11168415 0.27 135 500 1485 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.-8-86G>T r.(=) p.(=) Unknown g.48516464G>T - PFKM_000006 rs2269935 0.189 97 514 2239 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.85+2447T>C r.(=) p.(=) Unknown g.48519089T>C - PFKM_000007 rs770134472 0.001992 1 502 1085 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.85+2472G>C r.(=) p.(=) Unknown g.48519114G>C - PFKM_000008 rs567305680 0.002058 1 486 978 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.86-54G>T r.(=) p.(=) Unknown g.48524092G>T - PFKM_000009 rs75650121 0.003876 2 516 7589 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.159+11T>C r.(=) p.(=) Unknown g.48524230T>C - PFKM_000010 - 0.001938 1 516 6407 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.159+89C>A r.(=) p.(=) Unknown g.48524308C>A - PFKM_000011 rs74089112 0.003876 2 516 2971 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.160-214T>A r.(=) p.(=) Unknown g.48524885T>A - PFKM_000012 rs181916576 0.003922 2 510 1400 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.160-44A>G r.(=) p.(=) Unknown g.48525055A>G - PFKM_000013 rs116172105 0.001938 1 516 6215 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.237+73G>T r.(=) p.(=) Unknown g.48525249G>T - PFKM_000014 rs78042191 0.007813 4 512 1853 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.237+685A>G r.(=) p.(=) Unknown g.48525861A>G - PFKM_000015 rs10875747 0.213 110 516 6160 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.238-647C>T r.(=) p.(=) Unknown g.48526004C>T - PFKM_000016 rs11835145 0.00969 5 516 2000 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.246G>A r.(=) p.(=) Unknown g.48526659G>A - PFKM_000017 rs2228501 0.043 22 516 12185 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.299G>A r.(?) p.(Arg100Gln) Unknown g.48526712G>A - PFKM_000018 rs2228500 0.211 109 516 12850 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.306C>T r.(=) p.(=) Unknown g.48526719C>T - PFKM_000019 rs11552507 0.014 7 516 10539 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.427+52G>A r.(=) p.(=) Unknown g.48526892G>A - PFKM_000020 rs41291961 0.043 22 516 8258 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.427+129T>G r.(=) p.(=) Unknown g.48526969T>G - PFKM_000021 rs55682541 0.043 22 516 7210 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.428-128C>G r.(=) p.(=) Unknown g.48526970C>G - PFKM_000022 rs112524281 0.003876 2 516 7141 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.428-125T>C r.(=) p.(=) Unknown g.48526973T>C - PFKM_000023 rs573884167 0.001938 1 516 7150 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.428-68T>C r.(=) p.(=) Unknown g.48527030T>C - PFKM_000024 rs78911623 0.033 17 516 7556 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.428-39G>A r.(=) p.(=) Unknown g.48527059G>A - PFKM_000025 rs2269933 0.281 145 516 8530 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.495T>A r.(=) p.(=) Unknown g.48527165T>A - PFKM_000026 rs148858610 0.001938 1 516 9724 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.516C>T r.(=) p.(=) Unknown g.48527186C>T - PFKM_000027 rs1049392 0.171 88 516 11437 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.594-41A>G r.(=) p.(=) Unknown g.48527974A>G - PFKM_000028 rs56009798 0.003876 2 516 8327 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.594-38G>A r.(=) p.(=) Unknown g.48527977G>A - PFKM_000029 rs41291963 0.00969 5 516 8397 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.747+24T>G r.(=) p.(=) Unknown g.48528636T>G - PFKM_000030 rs149600978 0.00969 5 516 9028 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.748-29G>A r.(=) p.(=) Unknown g.48528697G>A - PFKM_000031 - 0.001938 1 516 9052 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.844-44G>T r.(=) p.(=) Unknown g.48529030G>T - PFKM_000032 rs73302834 0.001938 1 516 9479 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.844-38G>A r.(=) p.(=) Unknown g.48529036G>A - PFKM_000033 rs144281130 0.003876 2 516 9513 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.862G>A r.(?) p.(Gly288Arg) Unknown g.48529092G>A - PFKM_000034 rs773284854 0.001938 1 516 9549 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.872C>G r.(?) p.(Thr291Ser) Unknown g.48529102C>G - PFKM_000035 rs374834157 0.001938 1 516 9562 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.937-77G>C r.(=) p.(=) Unknown g.48531427G>C - PFKM_000036 rs982683196 0.001938 1 516 4456 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1063-74G>A r.(=) p.(=) Unknown g.48532994G>A - PFKM_000037 rs1025300461 0.001938 1 516 2395 1 0 DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1063-5C>T r.spl? p.? Unknown g.48533063C>T - PFKM_000038 rs758178966 0.001938 1 516 4983 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1127+217G>A r.(=) p.(=) Unknown g.48533349G>A - PFKM_000039 rs77605341 0.007752 4 516 2332 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1191+125G>T r.(=) p.(=) Unknown g.48533820G>T - PFKM_000040 rs112653217 0.009728 5 514 2803 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1191+126T>C r.(=) p.(=) Unknown g.48533821T>C - PFKM_000041 rs77822177 0.014 7 514 2770 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1341+24A>G r.(=) p.(=) Unknown g.48534678A>G - PFKM_000042 rs112610146 0.001938 1 516 9367 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1341+43A>G r.(=) p.(=) Unknown g.48534697A>G - PFKM_000043 rs182626922 0.001938 1 516 9129 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1341+83C>T r.(=) p.(=) Unknown g.48534737C>T - PFKM_000044 rs73302843 0.001938 1 516 7440 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1341+160_1341+161insG r.(=) p.(=) Unknown g.48534814_48534815insG - PFKM_000045 rs34700912 - - - - - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1342-90G>A r.(=) p.(=) Unknown g.48535004G>A - PFKM_000046 rs558425386 0.001938 1 516 5743 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1342-14G>T r.(=) p.(=) Unknown g.48535080G>T - PFKM_000047 rs56117548 0.025 13 516 7250 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1412+114C>T r.(=) p.(=) Unknown g.48535278C>T - PFKM_000048 rs79454264 0.025 13 516 7272 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1412+125A>T r.(=) p.(=) Unknown g.48535289A>T - PFKM_000049 rs565565714 0.001938 1 516 6833 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1413-58C>A r.(=) p.(=) Unknown g.48535465C>A - PFKM_000050 rs78496902 0.001938 1 516 4448 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1413-32C>T r.(=) p.(=) Unknown g.48535491C>T - PFKM_000051 rs111592216 0.001938 1 516 5491 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1500+29C>T r.(=) p.(=) Unknown g.48535639C>T - PFKM_000052 rs138256599 0.003876 2 516 7532 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1500+32C>T r.(=) p.(=) Unknown g.48535642C>T - PFKM_000053 rs41291967 0.00969 5 516 7458 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1654-159A>G r.(=) p.(=) Unknown g.48536406A>G - PFKM_000054 rs74089122 0.003876 2 516 1915 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1819-39A>G r.(=) p.(=) Unknown g.48537497A>G - PFKM_000055 rs56138845 0.003876 2 516 7895 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1880+27A>G r.(=) p.(=) Unknown g.48537624A>G - PFKM_000056 rs4075913 0.806 416 516 6398 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1880+32G>C r.(=) p.(=) Unknown g.48537629G>C - PFKM_000057 rs4075914 0.043 22 516 6115 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.1992+37A>G r.(=) p.(=) Unknown g.48537977A>G - PFKM_000058 rs199594588 0.001976 1 506 1687 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2087G>A r.(?) p.(Arg696His) Unknown g.48538908G>A - PFKM_000059 rs41291971 0.001938 1 516 9706 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2093-33G>T r.(=) p.(=) Unknown g.48538960G>T - PFKM_000060 rs140900282 0.001938 1 516 9771 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2093-14A>G r.(=) p.(=) Unknown g.48538979A>G - PFKM_000061 rs11168427 0.211 109 516 11875 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2198+86del r.(=) p.(=) Unknown g.48539184del - PFKM_000062 rs1460918885 0.211 109 516 11875 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2201A>G r.(?) p.(His734Arg) Unknown g.48539349A>G - PFKM_000063 rs141570669 0.001938 1 516 8248 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2312C>T r.(?) p.(Thr771Ile) Unknown g.48539460C>T - PFKM_000064 rs201190252 0.001938 1 516 5798 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.2334T>G r.(=) p.(=) Unknown g.48539482T>G - PFKM_000065 rs8716 0.351 181 516 4654 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
./. - c.*72_*73del r.(=) p.(=) Unknown g.48539563_48539564del - PFKM_000066 rs534563976 0.351 181 516 4654 - - DNA SEQ-NG-I - - Variants found in a pool of 258 unrelated reference individuals from Campinas region 258 Admin
Legend