RGD:8597100 Rat Genome Database

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Variant: RGD:8597100 -  Homo sapiens

RGD ID: 8597100
RS ID: rs35269064
ClinVar ID: CV21373
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 133,333,936
GRCh38 9 130,458,549
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
NM_000050.4:c.323G>T
NG_011542.1:g.18843G>T
NC_000009.12:g.130458549G>T
NC_000009.11:g.133333936G>T
More... 		05/18/2021 missense|missense variant pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance all ages|variable 1-9 / 100 000 AllHighlyPenetrant; Argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Citrullinuria; Classic citrullinemia; none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Citrullinuria  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:ASS1
Accession:NM_054012
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQLEGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Gene Symbol:ASS1
Accession:NM_000050
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 108
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQLEGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*
Variant Samples
Additional References at PubMed
PMID:11708871   PMID:11941481   PMID:21228398   PMID:25087612   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000006706 CLINVAR
  RCV000436562 CLINVAR
  RCV001273804 CLINVAR
  RCV001705583 CLINVAR
dbSNP (RS) rs35269064 CLINVAR
MedGen C0175683 CLINVAR
  C3661900 CLINVAR
  C4721769 CLINVAR
  CN169374 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
OMIM Allele 603470.0014 CLINVAR
SNOMED CT 398680004 CLINVAR