RGD:15169703 Rat Genome Database

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Variant: RGD:15169703 -  Homo sapiens

RGD ID: 15169703
RS ID: rs144007007
ClinVar ID: CV719760
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,817,519
GRCh38 2 240,878,102
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000030.3:c.1023C>A
NG_008005.1:g.14358C>A
NC_000002.12:g.240878102C>A
NC_000002.11:g.241817519C>A
More... 		07/02/2021 missense variant benign|likely benign 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 E (nonsynonymous)
Amino Acid Position: 341
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIEHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000883323 CLINVAR
  RCV001271651 CLINVAR
dbSNP (RS) rs144007007 CLINVAR
MedGen C0268164 CLINVAR
  C3661900 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR