RGD:10056384 Rat Genome Database

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Variant: RGD:10056384 -  Homo sapiens

RGD ID: 10056384
RS ID: rs138584408
ClinVar ID: CV200416
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 241,808,284
GRCh38 2 240,868,867
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.5123T>C
NC_000002.12:g.240868867T>C
NC_000002.11:g.241808284T>C
NM_000030.2:c.2T>C
More... 		12/31/2021 initiatior codon variant|initiator_codon_variant|missense variant pathogenic|likely pathogenic 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


Variant Details
Variant Transcripts
Gene Symbol:AGXT
Accession:NM_000030
Location:EXON
Amino Acid Prediction: M to T (nonsynonymous)
Amino Acid Position: 1
Amino Acid Sequence
(Calculated using NCBI transcript definition)
TASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:15365967   PMID:17495019   PMID:24934730   PMID:25741868   PMID:28492532   PMID:29456205  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186271 CLINVAR
  RCV001061218 CLINVAR
dbSNP (RS) rs138584408 CLINVAR
MedGen C0268164 CLINVAR
  C3661900 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR