RGD:11645975 Rat Genome Database

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Variant: RGD:11645975 -  Homo sapiens

RGD ID: 11645975
RS ID: rs886055840
ClinVar ID: CV285570
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,813,400
GRCh38 2 240,873,983
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008005.1:g.10239G>A
NC_000002.12:g.240873983G>A
NC_000002.11:g.241813400G>A
NP_000021.1:p.Asp201Asn
More... 		10/27/2023 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance 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


Variant Details
Variant Transcripts
Gene Symbol:AGXT
Accession:NM_000030
Location:EXON
Amino Acid Prediction: D to N (nonsynonymous)
Amino Acid Position: 201
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGINILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:15849466   PMID:17460142   PMID:22781098   PMID:24718375   PMID:25629080   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000268109 CLINVAR
  RCV002519959 CLINVAR
dbSNP (RS) rs886055840 CLINVAR
MedGen C0268164 CLINVAR
  C3661900 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR