rs12431539 Rat Genome Database

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Variant: rs12431539 -  Homo sapiens

RGD ID: 150461688
RS ID: rs12431539
ClinVar ID: CV1253272
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: L2HGDH  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 14 50,734,278
GRCh38 14 50,267,560
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_024884.3:c.1064+193A>C
NG_008092.1:g.49670A>C
NC_000014.9:g.50267560T>G
NC_000014.8:g.50734278T>G
 05/12/2021 intron variant benign none provided

Gene Symbol:L2HGDH
Accession:NM_001425215
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425212
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425216
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537167
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_017021655
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425213
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425214
Location:INTRON

Gene Symbol:L2HGDH
Accession:XM_011537168
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_024884
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425218
Location:INTRON

Gene Symbol:L2HGDH
Accession:NM_001425217
Location:INTRON

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

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

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Database
Acc Id
Source(s)
ClinVar RCV001669601 CLINVAR
dbSNP (RS) rs12431539 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene L2HGDH CLINVAR
OMIM 609584 CLINVAR