All transcript variants in gene D2HGDH

MSeqDR-LSDB: Mitochondrial Disease LSDB
Information The variants shown are described using the NM_152783.3 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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Effect     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Owner     
+/+ - 4/11 c.440T>G p.(Ile147Ser) - missense_variant - - subst g.242681939T>G - 5.060 - D2HGDH_000004 rs121434361 - ; clinvar; 15609246;7609436 - - LOVD
+/+ - 8/10 c.1123G>T p.(Asp375Tyr) probably_damaging(0.987) missense_variant - deleterious(0) subst g.242690786G>T - 5.100 - D2HGDH_000001 rs267606759 - ; clinvar; 16081310 - - LOVD
+/+ - 10/10 c.1315A>G p.(Asn439Asp) probably_damaging(0.957) missense_variant - deleterious(0.02) subst g.242707133A>G - 4.450 - D2HGDH_000002 rs121434362 - ; clinvar; 16037974 - - LOVD
+/+ - 10/10 c.1331T>C p.(Val444Ala) benign(0.259) missense_variant - deleterious(0.01) subst g.242707149T>C - 4.450 - D2HGDH_000003 rs121434360 - ; clinvar; 15609246 - - LOVD
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium