Unique variants in gene ABHD17A

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

31 entries on 1 page. Showing entries 1 - 31.
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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.-4866T>A r.(=) p.(=) utr-5 g.1889978A>T chr19_001149 rs111567054 -1.472000002861023 Ivo F.A.C. Fokkema
?/? 1 c.-4604C>G r.(=) p.(=) utr-5 g.1889716G>C chr19_001148 rs9749385 -1.347000002861023 Ivo F.A.C. Fokkema
?/? 1 c.-4453T>C r.(=) p.(=) utr-5 g.1889565A>G chr19_001147 rs9749413 -0.4569999873638153 Ivo F.A.C. Fokkema
?/? 1 c.-3778C>G r.(=) p.(=) utr-5 g.1888890G>C chr19_001146 rs4807161 -1.8880000114440918 Ivo F.A.C. Fokkema
?/? 1 c.-2570A>C r.(=) p.(=) utr-5 g.1887682T>G chr19_001145 rs60224057 0.7559999823570251 Ivo F.A.C. Fokkema
?/? 1 c.-2397A>C r.(=) p.(=) utr-5 g.1887509T>G chr19_001144 rs1866381 -0.11299999803304672 Ivo F.A.C. Fokkema
?/? 1 c.-2394G>A r.(=) p.(=) utr-5 g.1887506C>T chr19_001143 rs1866380 -2.1559998989105225 Ivo F.A.C. Fokkema
?/? 1 c.-2319A>G r.(=) p.(=) utr-5 g.1887431T>C chr19_001142 rs1866379 -3.509999990463257 Ivo F.A.C. Fokkema
?/? 1 c.-2252T>C r.(=) p.(=) utr-5 g.1887364A>G chr19_001141 rs1866378 -1.440999984741211 Ivo F.A.C. Fokkema
?/? 1 c.-1795G>A r.(=) p.(=) utr-5 g.1886907C>T chr19_001140 rs8109966 -1.5950000286102295 Ivo F.A.C. Fokkema
?/? 1 c.-1787A>G r.(=) p.(=) utr-5 g.1886899T>C chr19_001139 rs8113280 -0.75 Ivo F.A.C. Fokkema
?/? 1 c.-1264G>C r.(=) p.(=) utr-5 g.1886376C>G chr19_001138 rs35535536 0.17800000309944153 Ivo F.A.C. Fokkema
?/? 1 c.-836C>G r.(=) p.(=) utr-5 g.1885948G>C chr19_001137 rs10414095 0.30000001192092896 Ivo F.A.C. Fokkema
?/? 1 c.-789C>T r.(=) p.(=) utr-5 g.1885901G>A chr19_001136 rs10414061 -2.1089999675750732 Ivo F.A.C. Fokkema
?/? 1 c.-239+799C>T r.(=) p.(=) intron g.1884552G>A chr19_001135 rs7246402 -1.309999942779541 Ivo F.A.C. Fokkema
?/? 1 c.-239+1335A>G r.(=) p.(=) intron g.1884016T>C chr19_001134 rs7250218 -0.16599999368190765 Ivo F.A.C. Fokkema
?/? 1 c.-239+1400A>G r.(=) p.(=) intron g.1883951T>C chr19_001133 rs12978348 -0.859000027179718 Ivo F.A.C. Fokkema
?/? 1 c.-239+1697C>T r.(=) p.(=) intron g.1883654G>A chr19_001132 rs1610108 0.46399998664855957 Ivo F.A.C. Fokkema
?/? 1 c.-238-1744G>A r.(=) p.(=) intron g.1883547C>T chr19_001131 rs8111644 -2.36299991607666 Ivo F.A.C. Fokkema
?/? 1 c.-238-1630G>A r.(=) p.(=) intron g.1883433C>T chr19_001130 rs1610107 -1.5269999504089355 Ivo F.A.C. Fokkema
?/? 1 c.-238-959C>T r.(=) p.(=) intron g.1882762G>A chr19_001129 rs3810416 -0.5400000214576721 Ivo F.A.C. Fokkema
?/? 1 c.-238-117C>T r.(=) p.(=) intron g.1881920G>A chr19_001128 rs35259468 -0.39100000262260437 Ivo F.A.C. Fokkema
?/? 1 c.-238-116T>C r.(=) p.(=) intron g.1881919A>G chr19_001127 rs35259468 -1.3650000095367432 Ivo F.A.C. Fokkema
?/? 1 c.528-41C>A r.(=) p.(=) intron g.1877727G>T chr19_001125 rs2289287 -0.34299999475479126 Ivo F.A.C. Fokkema
?/? 1 c.*545C>G r.(=) p.(=) utr-3 g.1876654G>C chr19_001124 rs11671347 0.609000027179718 Ivo F.A.C. Fokkema
?/? 1 c.*633T>C r.(=) p.(=) utr-3 g.1876566A>G chr19_001123 rs10414308 -0.9279999732971191 Ivo F.A.C. Fokkema
?/? 1 c.*1190A>G r.(=) p.(=) utr-3 g.1876009T>C chr19_001122 rs8607 -2.1659998893737793 Ivo F.A.C. Fokkema
?/? 1 c.*3182C>T r.(=) p.(=) utr-3 g.1874017G>A chr19_001121 rs10422110 -0.1459999978542328 Ivo F.A.C. Fokkema
?/? 1 c.*3479C>T r.(=) p.(=) utr-3 g.1873720G>A chr19_001120 rs11084914 1.2660000324249268 Ivo F.A.C. Fokkema
?/? 1 c.*3938G>A r.(=) p.(=) utr-3 g.1873261C>T chr19_001119 rs10416817 -0.5580000281333923 Ivo F.A.C. Fokkema
?/? 1 c.*5084T>C r.(=) p.(=) utr-3 g.1872115A>G chr19_001118 rs11084913 -2.7320001125335693 Ivo F.A.C. Fokkema
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