Unique variants in gene STXBP1

Information The variants shown are described using the NM_003165.3 transcript reference sequence.

7 entries on 1 page. Showing entries 1 - 7.
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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.37+15998A>G - - g.127628438A>G - STXBP1_000006 rs10987706 0.9515 32 307 Admin
./. 1 - c.37+16378C>G - - g.127628818C>G - STXBP1_000007 rs10987707 0.8985 52 279 Admin
./. 1 - c.169+957C>T r.(=) p.(=) g.127654753C>T - STXBP1_000001 rs10117075 0.0882 45 7 Admin
./. 1 - c.170-203A>T - - g.127658172A>T - STXBP1_000002 rs7857988 0.0309 11 5 Admin
./. 1 - c.246+82A>C - - g.127658533A>C - STXBP1_000003 rs2287116 0.8779 62 267 Admin
./. 1 - c.1110+363A>G - - g.127673624A>G - STXBP1_000004 rs7854204 0.9779 13 325 Admin
./. 1 - c.1703-155C>T r.(=) p.(=) g.127684213C>T - STXBP1_000005 rs4836575 0.4882 124 104 Admin
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