RGD:11652796 Rat Genome Database

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Variant: RGD:11652796 -  Homo sapiens

RGD ID: 11652796
RS ID: rs886061909
ClinVar ID: CV309502
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 107,559,871
GRCh38 7 107,919,426
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008045.1:g.33286T>C
NC_000007.14:g.107919426T>C
NC_000007.13:g.107559871T>C
NM_000108.3:c.*167T>C
More... 		06/14/2016 3 prime utr variant uncertain significance neonatal/infancy 1-9 / 1 000 000|1-9 / 100 000 Ataxia with lactic acidosis 1; Dihydrolipoamide Dehydrogenase (E3) Deficiency; DIHYDROLIPOAMIDE DEHYDROGENASE DEFICIENCY; Dihydrolipoamide Dehydrogenase E3 Deficiency; DLD DEFICIENCY; Leigh Disease; Leigh's disease; Leigh's necrotizing encephalopathy; Leigh's syndrome; Lipoamide dehydrogenase deficiency; Lipoamide dehydrogenase deficiency, lactic acidosis due to; Maple syrup urine disease, type 3; MAPLE SYRUP URINE DISEASE, TYPE III; Necrotizing encephalopathy infantile subacute of Leigh; PDH DEFICIENCY; Pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate dehydrogenase deficiency; Subacute necrotizing encephalopathy
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DLD
Accession:NM_000108
Location:3UTRS;EXON

Gene Symbol:DLD
Accession:NM_001289751
Location:3UTRS;EXON

Gene Symbol:DLD
Accession:NM_001289750
Location:3UTRS;EXON

Gene Symbol:DLD
Accession:NM_001289752
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000307241 CLINVAR
  RCV000364131 CLINVAR
  RCV000404165 CLINVAR
dbSNP (RS) rs886061909 CLINVAR
MedGen C0023264 CLINVAR
  C0034345 CLINVAR
  C5574660 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR
  256000 CLINVAR
  312170 CLINVAR
SNOMED CT 29570005 CLINVAR
  46683007 CLINVAR