RGD:10058748 Rat Genome Database

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Variant: RGD:10058748 -  Homo sapiens

RGD ID: 10058748
RS ID: rs771937610
ClinVar ID: CV200180
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,370,371
GRCh38 9 130,494,984
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000050.4:c.1088G>A
NG_011542.1:g.55278G>A
NC_000009.12:g.130494984G>A
NC_000009.11:g.133370371G>A
More... 		02/24/2021 missense variant pathogenic|likely pathogenic|uncertain significance 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_000050
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGQESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Gene Symbol:ASS1
Accession:NM_054012
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 363
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGQESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*
Variant Samples
Additional References at PubMed
PMID:2358466   PMID:12815590   PMID:14680976   PMID:16124451   PMID:25537548   PMID:25741868   PMID:26117549   PMID:28111830   PMID:28492532   PMID:30285816   PMID:31469252  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000185788 CLINVAR
  RCV000633525 CLINVAR
  RCV002500568 CLINVAR
dbSNP (RS) rs771937610 CLINVAR
MedGen C0175683 CLINVAR
  C3661900 CLINVAR
  C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR