Unique variants in gene L3HYPDH

Information The variants shown are described using the NM_144581.1 transcript reference sequence.

9 entries on 1 page. Showing entries 1 - 9.
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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.346T>G r.(?) p.(Leu116Val) g.59483971A>C - L3HYPDH_000005 rs2296842 0.2897 124 36 Admin
./. 1 - c.508+801G>A - - g.59483008C>T - L3HYPDH_000004 rs8020189 0.2868 144 25 Admin
./. 1 - c.508+1080G>C - - g.59482729C>G - L3HYPDH_000003 rs1253103 0.5000 167 86 Admin
./. 1 - c.508+1112G>C r.(=) p.(=) g.59482697C>G - L3HYPDH_000002 rs17096278 0.9206 50 287 Admin
./. 1 - c.509-389G>A - - g.59479740C>T - L3HYPDH_000001 rs1273153 0.8779 61 267 Admin
./. 1 - c.679-837G>A r.(=) p.(=) g.59477051C>T - L3HYPDH_000007 rs17096257 0.8971 60 274 Admin
./. 1 - c.945T>C - - g.59473085A>G - L3HYPDH_000006 rs1046701 0.9382 40 298 Admin
./. 1 - c.1022T>C r.(?) p.(Ile341Thr) g.59473008A>G - L3HYPDH_000009 rs8660 0.5500 163 105 Admin
./. 1 - c.*4340G>A r.(=) p.(=) g.59468625C>T - L3HYPDH_000008 rs4898989 0.4294 163 64 Admin
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