RGD:10041535 Rat Genome Database

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Variant: RGD:10041535 -  Homo sapiens

RGD ID: 10041535
RS ID: rs180177207
ClinVar ID: CV186655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,808,767
GRCh38 2 240,869,350
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NG_008005.1:g.5606G>A
NC_000002.12:g.240869350G>A
NC_000002.11:g.241808767G>A
NP_000021.1:p.Gly116Arg
More... 		11/19/2021 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity all ages|variable 1 per million|1-9 / 1 000 000 Glycolic aciduria; Hepatic AGT deficiency; none provided; Oxalosis 1; OXALOSIS I; Peroxisomal alanine glyoxylate aminotransferase deficiency; Primary hyperoxaluria type 1; Serine pyruvate aminotransferase deficiency
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:AGXT
Accession:NM_000030
Location:EXON
Amino Acid Prediction: G to R (nonsynonymous)
Amino Acid Position: 116
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIRERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:10394939   PMID:10453743   PMID:11562405   PMID:17460142   PMID:24988064   PMID:25629080   PMID:25741868   PMID:26252291   PMID:28492532   PMID:33691640  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000169408 CLINVAR
  RCV001236818 CLINVAR
  RCV001814082 CLINVAR
dbSNP (RS) rs180177207 CLINVAR
MedGen C0268164 CLINVAR
  C3661900 CLINVAR
  C4021768 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR