RGD:28909275 Rat Genome Database

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Variant: RGD:28909275 -  Homo sapiens

RGD ID: 28909275
RS ID: rs16872391
ClinVar ID: CV897241
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 7 107,560,178
GRCh38 7 107,919,733
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000108.5:c.*474T>C
NM_001289750.1:c.*474T>C
NM_001289751.1:c.*474T>C
NM_001289752.1:c.*474T>C
More... 		01/13/2018 3 prime utr variant benign|likely benign 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; none provided; 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_001289752
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001160522 CLINVAR
  RCV001160523 CLINVAR
  RCV001160524 CLINVAR
  RCV001797156 CLINVAR
dbSNP (RS) rs16872391 CLINVAR
MedGen C0023264 CLINVAR
  C0034345 CLINVAR
  C3661900 CLINVAR
  C5574660 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR
  256000 CLINVAR
  312170 CLINVAR
SNOMED CT 29570005 CLINVAR
  46683007 CLINVAR