RGD:10056428 Rat Genome Database

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Variant: RGD:10056428 -  Homo sapiens

RGD ID: 10056428
RS ID: rs180177232
ClinVar ID: CV200506
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: AGXT  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 241,810,861
GRCh38 2 240,871,444
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
NP_000021.1:p.Cys173X
NG_008005.1:g.7700C>A
NC_000002.12:g.240871444C>A
NC_000002.11:g.241810861C>A
More... 		11/04/2019 nonsense 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: C to * (nonsynonymous)
Amino Acid Position: 173
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASHKLLVTPPKALLKPLSIPNQLLLGPGPSNLPPRIMAAGGLQMIGSMSKDMYQIMDEIKEGIQYVFQTRNPLTLVISG
SGHCALEAALVNVLEPGDSFLVGANGIWGQRAVDIGERIGARVHPMTKDPGGHYTLQEVEEGLAQHKPVLLFLTHGESST
GVLQPLDGFGEL*HRYKCLLLVDSVASLGGTPLYMDRQGIDILYSGSQKALNAPPGTSLISFSDKAKKKMYSRKTKPFSF
YLDIKWLANFWGCDDQPRMYHHTIPVISLYSLRESLALIAEQGLENSWRQHREAAAYLHGRLQALGLQLFVKDPALRLPT
VTTVAVPAGYDWRDIVSYVIDHFDIEIMGGLGPSTGKVLRIGLLGCNATRENVDRVTEALRAALQHCPKKKL*
Variant Samples
Additional References at PubMed
PMID:15253729  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000186315 CLINVAR
  RCV001192775 CLINVAR
dbSNP (RS) rs180177232 CLINVAR
MedGen C0020501 CLINVAR
  C0268164 CLINVAR
NCBI Gene AGXT CLINVAR
OMIM 259900 CLINVAR
  604285 CLINVAR
SNOMED CT 17901006 CLINVAR
  65520001 CLINVAR