Unique variants in gene GBF1

Information The variants shown are described using the NM_001199378.1 transcript reference sequence.

15 entries on 1 page. Showing entries 1 - 15.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Heterozygote     

Homozygous     

Owner     
./. 1 - c.-11+3212C>T - - g.102248993C>T - GBF1_000011 rs4244350 0.6588 144 151 Admin
./. 1 - c.163+1211A>G r.(=) p.(=) g.102261327A>G - GBF1_000012 rs4919624 0.2103 100 21 Admin
./. 1 - c.163+1235C>G - - g.102261351C>G - GBF1_000013 rs17094517 0.9544 29 309 Admin
./. 1 - c.163+16481C>T - - g.102276597C>T - GBF1_000014 rs812799 0.3382 146 42 Admin
./. 1 - c.163+16575A>T - - g.102276691A>T - GBF1_000015 rs772021 0.4838 143 93 Admin
./. 1 - c.164-27578C>T - - g.102316473C>T - GBF1_000008 rs17780667 0.2029 104 17 Admin
./. 1 - c.164-17888A>G - - g.102326163A>G - GBF1_000009 rs945781 0.8353 92 237 Admin
./. 1 - c.164-16580C>T - - g.102327471C>T - GBF1_000010 rs11191260 0.9544 23 312 Admin
./. 1 - c.164-12713A>T - - g.102331338A>T - GBF1_000007 rs17780834 0.9426 27 306 Admin
./. 1 - c.415-31C>T - - g.102351812C>T - GBF1_000006 rs2297759 0.8897 63 270 Admin
./. 1 - c.639+1474A>G - - g.102355128A>G - GBF1_000004 rs3802680 0.6882 142 162 Admin
./. 1 - c.639+1850C>T - - g.102355504C>T - GBF1_000005 rs11191268 0.0588 22 9 Admin
./. 1 - c.639+1983A>T r.(=) p.(=) g.102355637A>T - GBF1_000001 rs3802678 0.1956 99 17 Admin
./. 1 - c.2560-65A>G r.(=) p.(=) g.102367413A>G - GBF1_000002 rs2273555 0.3794 152 53 Admin
./. 1 - c.3660+1917C>T - - g.102372777C>T - GBF1_000003 rs12572826 0.8235 96 231 Admin
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