Unique variants in gene ABCA8

Information The variants shown are described using the NM_007168.2 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Reported     

AscendingDNA change (cDNA)     

RNA change     

Protein     

GVS function     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

PhyloP conservation     

Owner     
?/? 1 c.-5164C>A r.(=) p.(=) utr-5 g.66956518G>T chr17_018089 rs55946871 0.20000000298023224 Ivo F.A.C. Fokkema
?/? 1 c.-4321A>T r.(=) p.(=) utr-5 g.66955675T>A chr17_018088 rs34944606 0.17800000309944153 Ivo F.A.C. Fokkema
?/? 1 c.-1106C>T r.(=) p.(=) utr-5 g.66952460G>A chr17_018087 rs11077828 0.004000000189989805 Ivo F.A.C. Fokkema
?/? 1 c.-6+2405G>A r.(=) p.(=) intron g.66948955C>T chr17_018086 rs1990334 -0.8980000019073486 Ivo F.A.C. Fokkema
?/? 1 c.-6+2852G>A r.(=) p.(=) intron g.66948508C>T chr17_018085 rs8079972 -1.4869999885559082 Ivo F.A.C. Fokkema
?/? 1 c.-6+3264A>G r.(=) p.(=) intron g.66948096T>C chr17_018084 rs8072891 -0.04899999871850014 Ivo F.A.C. Fokkema
?/? 1 c.-6+3406T>C r.(=) p.(=) intron g.66947954A>G chr17_018083 rs8068037 -0.07000000029802322 Ivo F.A.C. Fokkema
?/? 1 c.-6+3505A>T r.(=) p.(=) intron g.66947855T>A chr17_018082 - -1.7200000286102295 Ivo F.A.C. Fokkema
?/? 1 c.-6+4106C>A r.(=) p.(=) intron g.66947254G>T chr17_018081 rs11655684 0.2329999953508377 Ivo F.A.C. Fokkema
?/? 1 c.-6+4936A>C r.(=) p.(=) intron g.66946424T>G chr17_018080 rs4968827 0.2669999897480011 Ivo F.A.C. Fokkema
?/? 1 c.-6+5171T>G r.(=) p.(=) intron g.66946189A>C chr17_018079 rs4968978 -1.871000051498413 Ivo F.A.C. Fokkema
?/? 1 c.-6+5332C>T r.(=) p.(=) intron g.66946028G>A chr17_018078 rs7225473 -1.8880000114440918 Ivo F.A.C. Fokkema
?/? 1 c.-6+6518G>A r.(=) p.(=) intron g.66944842C>T chr17_018077 rs2191214 0.12200000137090683 Ivo F.A.C. Fokkema
?/? 1 c.-5-6462C>A r.(=) p.(=) intron g.66944642G>T chr17_018076 rs114618762 0.12200000137090683 Ivo F.A.C. Fokkema
?/? 1 c.-5-6177T>A r.(=) p.(=) intron g.66944357A>T chr17_018075 rs8075514 -2.0350000858306885 Ivo F.A.C. Fokkema
?/? 1 c.-5-5558T>C r.(=) p.(=) intron g.66943738A>G chr17_018074 rs4147951 -1.6959999799728394 Ivo F.A.C. Fokkema
?/? 1 c.-5-5460C>T r.(=) p.(=) intron g.66943640G>A chr17_018073 rs4147953 -1.3760000467300415 Ivo F.A.C. Fokkema
?/? 1 c.-5-4910C>T r.(=) p.(=) intron g.66943090G>A chr17_018072 rs66776659 - Ivo F.A.C. Fokkema
?/? 1 c.-5-4817C>T r.(=) p.(=) intron g.66942997G>A chr17_018071 rs11650211 -0.734000027179718 Ivo F.A.C. Fokkema
?/? 1 c.-5-4327C>T r.(=) p.(=) intron g.66942507G>A chr17_018070 rs11658489 0.6859999895095825 Ivo F.A.C. Fokkema
?/? 1 c.-5-4148A>G r.(=) p.(=) intron g.66942328T>C chr17_018069 rs11077819 -0.9470000267028809 Ivo F.A.C. Fokkema
?/? 1 c.-5-4086C>A r.(=) p.(=) intron g.66942266G>T chr17_018068 rs11077818 -1.065000057220459 Ivo F.A.C. Fokkema
?/? 1 c.-5-3783G>A r.(=) p.(=) intron g.66941963C>T chr17_018067 rs4147954 -0.40799999237060547 Ivo F.A.C. Fokkema
?/? 1 c.-5-3661T>C r.(=) p.(=) intron g.66941841A>G chr17_018066 rs4147955 -0.2540000081062317 Ivo F.A.C. Fokkema
?/? 1 c.-5-3294T>A r.(=) p.(=) intron g.66941474A>T chr17_018065 rs35170392 -0.20900000631809235 Ivo F.A.C. Fokkema
?/? 1 c.-5-2775T>G r.(=) p.(=) intron g.66940955A>C chr17_018064 rs149364629 -0.8259999752044678 Ivo F.A.C. Fokkema
?/? 1 c.-5-2320A>G r.(=) p.(=) intron g.66940500T>C chr17_018063 rs72378860 -0.38100001215934753 Ivo F.A.C. Fokkema
?/? 1 c.-5-2278A>T r.(=) p.(=) intron g.66940458T>A chr17_018062 rs6146129 -3.4609999656677246 Ivo F.A.C. Fokkema
?/? 1 c.-5-1300G>C r.(=) p.(=) intron g.66939480C>G chr17_018061 rs1860445 -3.009999990463257 Ivo F.A.C. Fokkema
?/? 1 c.-5-1294C>T r.(=) p.(=) intron g.66939474G>A chr17_018060 rs1860446 -0.4169999957084656 Ivo F.A.C. Fokkema
?/? 1 c.-5-839G>T r.(=) p.(=) intron g.66939019C>A chr17_018059 rs887380 0.4230000078678131 Ivo F.A.C. Fokkema
?/? 1 c.-5-80T>C r.(=) p.(=) intron g.66938260A>G chr17_018058 rs4147957 -0.9399999976158142 Ivo F.A.C. Fokkema
?/? 1 c.-5-52T>C r.(=) p.(=) intron g.66938232A>G chr17_018057 rs4147958 1.1770000457763672 Ivo F.A.C. Fokkema
?/? 1 c.4122C>G r.(?) p.(=) coding-synonymous g.66872802G>C chr17_018056 rs1481 -3.6510000228881836 Ivo F.A.C. Fokkema
?/? 1 c.*2564C>A r.(=) p.(=) utr-3 g.66861662G>T chr17_018055 rs9747417 -2.065000057220459 Ivo F.A.C. Fokkema
?/? 1 c.*3643T>A r.(=) p.(=) utr-3 g.66860583A>T chr17_018054 rs16973376 0.04600000008940697 Ivo F.A.C. Fokkema
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