Unique variants in gene ABCA12

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

17 entries on 1 page. Showing entries 1 - 17.
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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.-5041G>T r.(=) p.(=) utr-5 g.216007972C>A chr2_027791 rs1965505 -0.8109999895095825 Ivo F.A.C. Fokkema
?/? 1 c.-5001A>C r.(=) p.(=) utr-5 g.216007932T>G chr2_027790 rs1965504 -1.218999981880188 Ivo F.A.C. Fokkema
?/? 1 c.-4909A>G r.(=) p.(=) utr-5 g.216007840T>C chr2_027789 rs1965503 -0.5009999871253967 Ivo F.A.C. Fokkema
?/? 1 c.-4714A>T r.(=) p.(=) utr-5 g.216007645T>A chr2_027788 rs2970970 0.6959999799728394 Ivo F.A.C. Fokkema
?/? 1 c.-3018C>T r.(=) p.(=) utr-5 g.216005949G>A chr2_027787 rs2970969 0.20000000298023224 Ivo F.A.C. Fokkema
?/? 1 c.-2031T>G r.(=) p.(=) utr-5 g.216004962A>C chr2_027786 rs2948984 1.2890000343322754 Ivo F.A.C. Fokkema
?/? 1 c.-1003G>A r.(=) p.(=) utr-5 g.216003934C>T chr2_027785 rs2948983 0.906000018119812 Ivo F.A.C. Fokkema
?/? 1 c.-881T>C r.(=) p.(=) utr-5 g.216003812A>G chr2_027784 rs2948982 0.25200000405311584 Ivo F.A.C. Fokkema
?/? 1 c.-476A>G r.(=) p.(=) utr-5 g.216003407T>C chr2_027783 rs2948981 2.3269999027252197 Ivo F.A.C. Fokkema
?/? 1 c.164-30C>G r.(=) p.(=) intron g.215928972G>C chr2_027782 rs1523721 -0.08799999952316284 Ivo F.A.C. Fokkema
?/? 1 c.2329T>A r.(?) p.(Ser777Thr) missense g.215876166A>T chr2_027771 rs7560008 -0.8510000109672546 Ivo F.A.C. Fokkema
?/? 1 c.3033A>G r.(?) p.(=) coding-synonymous g.215865575T>C chr2_027770 rs10498030 0.6019999980926514 Ivo F.A.C. Fokkema
?/? 1 c.3294+36C>T r.(=) p.(=) intron g.215862383G>A chr2_027769 rs1980844 -0.2540000081062317 Ivo F.A.C. Fokkema
?/? 1 c.3295-25C>T r.(=) p.(=) intron g.215855780G>A chr2_027768 rs4533467 -0.36800000071525574 Ivo F.A.C. Fokkema
?/? 1 c.4163+20T>C r.(=) p.(=) intron g.215851246A>G chr2_027767 rs7559069 -2.759000062942505 Ivo F.A.C. Fokkema
?/? 1 c.5778+29T>C r.(=) p.(=) intron g.215833415A>G chr2_027766 rs4673925 -0.28700000047683716 Ivo F.A.C. Fokkema
?/? 1 c.6306C>T r.(?) p.(=) coding-synonymous g.215820013G>A chr2_027765 rs10498027 -0.2199999988079071 Ivo F.A.C. Fokkema
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