View transcript #00000692

Transcript name D-2-hydroxyglutarate dehydrogenase
Gene name D2HGDH (D-2-hydroxyglutarate dehydrogenase)
Chromosome 2
Transcript - NCBI ID NM_152783.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_689996.4
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

4 entries on 1 page. Showing entries 1 - 4.
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Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+/+ - 4/11 c.440T>G p.(Ile147Ser) - missense_variant - -
+/+ - 8/10 c.1123G>T p.(Asp375Tyr) probably_damaging(0.987) missense_variant - deleterious(0)
+/+ - 10/10 c.1315A>G p.(Asn439Asp) probably_damaging(0.957) missense_variant - deleterious(0.02)
+/+ - 10/10 c.1331T>C p.(Val444Ala) benign(0.259) missense_variant - deleterious(0.01)
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