rs2139977737 Rat Genome Database

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Variant: rs2139977737 -  Homo sapiens

RGD ID: 150520231
RS ID: rs2139977737
ClinVar ID: CV1289350
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L2HGDH  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 14 50,734,627
GRCh38 14 50,267,909
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_024884.3:c.908T>A
NC_000014.8:g.50734627A>T
NP_079160.1:p.Val303Asp
NG_008092.1:g.49321T>A
More... 		missense variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1289350HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1289350HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868
Gene Symbol:L2HGDH
Accession:NM_001425217
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425212
Location:EXON

Gene Symbol:L2HGDH
Accession:XM_017021655
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425214
Location:EXON

Gene Symbol:L2HGDH
Accession:XM_011537167
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425216
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425215
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425218
Location:EXON

Gene Symbol:L2HGDH
Accession:XM_011537168
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_024884
Location:EXON

Gene Symbol:L2HGDH
Accession:NM_001425213
Location:EXON

Gene Symbol:L2HGDH
Accession:XR_007064046
Location:INTRON;NON-CODING

Gene Symbol:L2HGDH
Accession:XR_007064047
Location:INTRON;NON-CODING

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001728101 CLINVAR
dbSNP (RS) rs2139977737 CLINVAR
MedGen C1855995 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 236792 CLINVAR
  609584 CLINVAR