Unique variants in gene L2HGDH

Information The variants shown are described using the NM_024884.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
Legend  

Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

Frequency     

Owner     
./. 1 - c.540+2581T>C - - g.50291534A>G dbSNP L2HGDH_000014 0.958 Admin
./. 1 - c.541-2124G>A - - g.50286157C>T dbSNP L2HGDH_000013 0.941 Admin
./. 1 - c.704-2558T>G - - g.50281112A>C dbSNP L2HGDH_000012 0.006 Admin
./. 1 - c.704-2064C>A r.(=) p.(=) g.50280618G>T dbSNP L2HGDH_000011 0.460 Admin
./. 1 - c.738+2990T>C - - g.50275530A>G dbSNP L2HGDH_000010 0.659 Admin
./. 1 - c.739-3998G>A - - g.50273328C>T dbSNP L2HGDH_000009 0.027 Admin
./. 1 - c.739-1620G>A - - g.50270950C>T dbSNP L2HGDH_000008 0.633 Admin
./. 1 - c.739-676G>A - - g.50270006C>T dbSNP L2HGDH_000007 0.475 Admin
./. 1 - c.1065-739T>C - - g.50266228A>G dbSNP L2HGDH_000006 0.513 Admin
./. 1 - c.1196+2827T>C - - g.50262531A>G dbSNP L2HGDH_000005 0.479 Admin
./. 1 - c.1196+5067G>C - - g.50260291C>G dbSNP L2HGDH_000004 0.542 Admin
./. 1 - c.1196+8117T>C r.(=) p.(=) g.50257241A>G dbSNP L2HGDH_000003 0.862 Admin
./. 1 - c.1197-302T>C r.(=) p.(=) g.50247555A>G dbSNP L2HGDH_000002 0.479 Admin
./. 1 - c.1197-222G>A - - g.50247475C>T dbSNP L2HGDH_000001 0.350 Admin
Legend