RGD:10056408 Rat Genome Database

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Variant: RGD:10056408 -  Homo sapiens

RGD ID: 10056408
RS ID: rs796052060
ClinVar ID: CV200468
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 241,808,745
GRCh38 2 240,869,328
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.5584G>T
NC_000002.12:g.240869328G>T
NC_000002.11:g.241808745G>T
NM_000030.3:c.324G>T
More... 		11/27/2014 missense variant pathogenic all ages|variable 1 per million|1-9 / 1 000 000 Glycolic aciduria; Hepatic AGT deficiency; 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: W to C (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGICGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000186295 CLINVAR
dbSNP (RS) rs796052060 CLINVAR
MedGen C0268164 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR