Transcript #00010922 (NM_024884.2, L2HGDH gene)

Transcript name L-2-hydroxyglutarate dehydrogenase
Gene name L2HGDH (L-2-hydroxyglutarate dehydrogenase)
Chromosome 14
Transcript - NCBI ID NM_024884.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_079160.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

435 entries on 5 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_9i c.-1_1196+1del r.0? p.?
+/. _1_10_ c.-1_*1del r.0? p.0?
+?/. 1 c.1A>C r.(?) p.0?
+?/. 1 c.1A>C r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.1A>G r.(?) p.0?
+?/. 1 c.25del r.(?) p.(Val9Leufs*43)
+?/. 1 c.25del r.(?) p.(Val9Leufs*43)
+?/. 1 c.25del r.(?) p.(Val9Leufs*43)
-/. 1 c.53T>G r.(?) p.(Leu18Arg)
-/. - c.53T>G r.(?) p.(Leu18Arg)
-/? 1 c.99G>T r.(?) p.(Arg33Ser)
+?/. - c.140+1G>A r.(?) p.(?)
+/. 1i_4i c.141-1_540+1del r.spl? p.?
+/. 1i_4i c.141-1_540+1del r.spl? p.?
+/. 1i_4i c.141-1_540+1del r.spl? p.?
?/. - c.148G>A r.(?) p.(Asp50Asn)
-/. - c.159C>T r.(?) p.(Ile53=)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.164G>A r.(?) p.(Gly55Asp)
+?/. - c.164G>A r.(?) p.(Gly55Asp)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.169G>A r.(?) p.(Gly57Arg)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+?/. 2 c.185C>A r.(?) p.(Ala62Asp)
+/. - c.208C>T r.(?) p.(Arg70Ter)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. - c.208C>T r.(?) p.(Arg70Ter)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+/. 2 c.208C>T r.(?) p.(Arg70*)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
+?/. 2 c.241A>G r.(?) p.(Lys81Glu)
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