rs780995124 Rat Genome Database

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Variant: rs780995124 -  Homo sapiens

RGD ID: 152096753
RS ID: rs780995124
ClinVar ID: CV1636377
Genic Status: GENIC
Type: insertion (SO:0000667) 
Associated Genes: L2HGDH  
Reference Nucleotide: -
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 14 50,732,220
GRCh38 14 50,265,502
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_024884.3:c.1065-13dup
NG_008092.1:g.51728dup
NC_000014.9:g.50265509dup
NC_000014.8:g.50732219_50732220insA
More... 		06/13/2022 intron variant benign
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1636377HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1636377HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:28492532
Gene Symbol:L2HGDH
Accession:XM_011537167
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425214
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425218
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537168
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425215
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425217
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425213
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425216
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_017021655
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_024884
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425212
Location:INTRON

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

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

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV002132736 CLINVAR
dbSNP (RS) rs780995124 CLINVAR
MedGen C1855995 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 236792 CLINVAR
  609584 CLINVAR