RGD:10056176 Rat Genome Database

Variant: RGD:10056176 - Homo sapiens

RGD ID:

10056176

RS ID:

rs138002793

ClinVar ID:

CV200131

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DLD

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	7	107,533,705
GRCh38	7	107,893,260

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_008045.1:g.7120A>G NC_000007.14:g.107893260A>G NC_000007.13:g.107533705A>G NM_000108.3:c.100A>G More...	12/04/2019	5 prime utr variant\|missense variant	likely benign\|uncertain significance	neonatal/infancy	1-9 / 1 000 000\|1-9 / 100 000	AllHighlyPenetrant; 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

Disease Annotations Click to see Annotation Detail View

Congenital Infantile Lactic Acidosis due to LAD Deficiency (IAGP)

Leigh disease (IAGP)

pyruvate decarboxylase deficiency (IAGP)

Subacute Necrotizing Encephalopathy of Leigh, Infantile (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Decreased activity of the pyruvate dehydrogenase complex (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	DLD
Accession:	NM_001289750
Location:	5UTRS;EXON

Gene Symbol:	DLD
Accession:	NM_001289751
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRAYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKALLNNSHYYHMAHG KDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKNQVTATKADGGTQVIDTKNILIAT GSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQR ILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRF QTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPF AANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASF GKSINF*

Gene Symbol:	DLD
Accession:	NM_001289752
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRAYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKIDEDTIVSSTGALS LKKVPEKMVVIGAGVIGVELGSVWQRLGADVTAVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGK IDVSIEAASGGKAEVITCDVLLVCIGRRPFTKNLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAED EGIICVEGMAGGAVHIDYNCVPSVIYTHPEVAWVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTD RVLGAHILGPGAGEMVNEAALALEYGASCEDIARVCHAHPTLSEAFREANLAASFGKSINF*

Gene Symbol:	DLD
Accession:	NM_000108
Location:	EXON
Amino Acid Prediction:	T to A (nonsynonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQSWSRVYCSLAKRGHFNRISHGLQGLSAVPLRAYADQPIDADVTVIGSGPGGYVAAIKAAQLGFKTVCIEKNETLGGTC LNVGCIPSKALLNNSHYYHMAHGKDFASRGIEMSEVRLNLDKMMEQKSTAVKALTGGIAHLFKQNKVVHVNGYGKITGKN QVTATKADGGTQVIDTKNILIATGSEVTPFPGITIDEDTIVSSTGALSLKKVPEKMVVIGAGVIGVELGSVWQRLGADVT AVEFLGHVGGVGIDMEISKNFQRILQKQGFKFKLNTKVTGATKKSDGKIDVSIEAASGGKAEVITCDVLLVCIGRRPFTK NLGLEELGIELDPRGRIPVNTRFQTKIPNIYAIGDVVAGPMLAHKAEDEGIICVEGMAGGAVHIDYNCVPSVIYTHPEVA WVGKSEEQLKEEGIEYKVGKFPFAANSRAKTNADTDGMVKILGQKSTDRVLGAHILGPGAGEMVNEAALALEYGASCEDI ARVCHAHPTLSEAFREANLAASFGKSINF*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:25741868	PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000281549	CLINVAR
	RCV000317845	CLINVAR
	RCV000367820	CLINVAR
	RCV000376021	CLINVAR
	RCV000487629	CLINVAR
dbSNP (RS)	rs138002793	CLINVAR
MedGen	C0023264	CLINVAR
	C0034345	CLINVAR
	C3661900	CLINVAR
	C5574660	CLINVAR
	CN169374	CLINVAR
NCBI Gene	DLD	CLINVAR
OMIM	238331	CLINVAR
	246900	CLINVAR
	256000	CLINVAR
	312170	CLINVAR
SNOMED CT	29570005	CLINVAR
	46683007	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Variant: RGD:10056176 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:10056176 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar