RGD:10056351 Rat Genome Database

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Variant: RGD:10056351 -  Homo sapiens

RGD ID: 10056351
RS ID: rs180177192
ClinVar ID: CV200464
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,808,717
GRCh38 2 240,869,300
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.5556C>A
NC_000002.12:g.240869300C>A
NC_000002.11:g.241808717C>A
NM_000030.3:c.296C>A
More... 		11/27/2014 missense variant uncertain significance 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: S to Y (nonsynonymous)
Amino Acid Position: 99
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDYFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGELCHRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:19479957  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186235 CLINVAR
dbSNP (RS) rs180177192 CLINVAR
MedGen C0268164 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 65520001 CLINVAR