RGD:28907174 Rat Genome Database

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Variant: RGD:28907174 -  Homo sapiens

RGD ID: 28907174
RS ID: rs77095705
ClinVar ID: CV897250
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 7 107,561,004
GRCh38 7 107,920,559
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.*1300A>G
NM_001289750.1:c.*1300A>G
NM_001289751.1:c.*1300A>G
NM_001289752.1:c.*1300A>G
More...
01/13/2018 3 prime utr variant 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; 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 RCV001159363 CLINVAR
  RCV001159364 CLINVAR
  RCV001159365 CLINVAR
dbSNP (RS) rs77095705 CLINVAR
MedGen C0023264 CLINVAR
  C0034345 CLINVAR
  C5574660 CLINVAR
  CN043137 CLINVAR
NCBI Gene DLD CLINVAR
OMIM 238331 CLINVAR
  246900 CLINVAR
  256000 CLINVAR
  312170 CLINVAR
SNOMED CT 29570005 CLINVAR
  46683007 CLINVAR