rs1889265791 Rat Genome Database

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Variant: rs1889265791 -  Homo sapiens

RGD ID: 38465667
RS ID: rs1889265791
ClinVar ID: CV961873
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: L2HGDH  
Reference Nucleotide: GACCAGCACTAAGGGCCATGATGTAGCAATGCCCAATAAATGCACTGCAAAGGGAATTCAACAACATGTTGGGAAAGAAAGCAAACAAAAATTCAGTGCATATGCAGACTGACTCTGAAATGGTACTTACTAATCACCAAGTCAGACCCACCTCTCAAGTTCACATAGGTCAGGACTGTATTTACACTCCTTATCCCTTTTCCTTACCTAAGTATATCACTGATAGTAATTTCAGGGATGAATTTTTGAAGATACTTCACTGTTGCACCAAGAAAACATGCTTTATACATTTCAGTAACTCCATAGGAAAAATTCTGGGATGCCAGTTTAATCAAGCCACTGAAAACAGAGA
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 14 50,731,870 - 50,732,222
GRCh38 14 50,265,152 - 50,265,504
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_008092.1:g.51728_52079del
NC_000014.9:g.50265151_50265502del
NC_000014.8:g.50731869_50732220del
NM_024884.3:c.1065-13_1196+207del
 splice acceptor variant pathogenic
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV961873HumanL-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)
CV961873HumanL-2-hydroxyglutaric aciduria  IAGP 8554872ClinVar Annotator: match by term: L-2-hydroxyglutaric aciduriaClinVarPMID:25741868
Gene Symbol:L2HGDH
Accession:XM_017021655
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537167
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425218
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425214
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425212
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425213
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_024884
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425217
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425216
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537168
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425215
Location:INTRON

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

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

.
PMID:25741868  



Database
Acc Id
Source(s)
ClinVar RCV001250242 CLINVAR
dbSNP (RS) rs1889265791 CLINVAR
MedGen C1855995 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 236792 CLINVAR
  609584 CLINVAR