RGD:13791449 Rat Genome Database

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Variant: RGD:13791449 -  Homo sapiens

RGD ID: 13791449
RS ID: rs1244822375
ClinVar ID: CV545462
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GRHPR  LOC127814738  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 9 37,424,973
GRCh38 9 37,424,976
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000009.12:g.37424976G>C
NC_000009.11:g.37424973G>C
NG_008135.1:g.7267G>C
NG_116258.1:g.109G>C
More... 		05/31/2017 splice donor variant likely pathogenic D-glycerate dehydrogenase deficiency; Glyceric aciduria; Glyoxylate reductase/hydroxypyruvate reductase deficiency; Oxalosis 2; OXALOSIS II; Primary hyperoxaluria type 2
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GRHPR
Accession:XM_017015320
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_005251631
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_017015323
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_017015321
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_047424084
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_024447716
Location:INTRON

Gene Symbol:GRHPR
Accession:XM_047424085
Location:INTRON

Gene Symbol:GRHPR
Accession:NM_012203
Location:INTRON

Gene Symbol:GRHPR
Accession:XR_002956828
Location:INTRON;NON-CODING

Gene Symbol:GRHPR
Accession:XR_007061375
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000667472 CLINVAR
dbSNP (RS) rs1244822375 CLINVAR
MedGen C0268165 CLINVAR
NCBI Gene GRHPR CLINVAR
OMIM 260000 CLINVAR
  604296 CLINVAR
SNOMED CT 40951006 CLINVAR