Full data view for 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     

Allele     

Type     

DNA change (genomic) (hg19)     

Published as     

GERP     

Segregation     

DB-ID     

MSCV     

dbSNP ID     

Frequency     

Sources     

Reference     

Variant remarks     

Genetic origin     

Date     

Template     

Technique     

Tissue     

Description     

Disease     

Reference     

Gender     

Geographic origin     

Ethnic origin     

Population     

Consanguinity     

Age of death     

Cause of death     

Remarks     

Panel size     

Owner     
+/+ - 4/11 c.440T>G p.(Ile147Ser) - missense_variant - - Unknown subst g.242681939T>G - 5.060 - D2HGDH_000004 MSCV_0002887 rs121434361 - ; clinvar; 15609246;7609436 - - - - - - - - - - - - - - - - - - -
+/+ - 8/10 c.1123G>T p.(Asp375Tyr) probably_damaging(0.987) missense_variant - deleterious(0) Unknown subst g.242690786G>T - 5.100 - D2HGDH_000001 MSCV_0002888 rs267606759 - ; clinvar; 16081310 - - - - - - - - - - - - - - - - - - -
+/+ - 10/10 c.1315A>G p.(Asn439Asp) probably_damaging(0.957) missense_variant - deleterious(0.02) Unknown subst g.242707133A>G - 4.450 - D2HGDH_000002 MSCV_0002889 rs121434362 - ; clinvar; 16037974 - - - - - - - - - - - - - - - - - - -
+/+ - 10/10 c.1331T>C p.(Val444Ala) benign(0.259) missense_variant - deleterious(0.01) Unknown subst g.242707149T>C - 4.450 - D2HGDH_000003 MSCV_0002890 rs121434360 - ; clinvar; 15609246 - - - - - - - - - - - - - - - - - - -
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Variations Associated with Mitochondrial Diseases Gene

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium