RGD:13788425 Rat Genome Database

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Variant: RGD:13788425 -  Homo sapiens

RGD ID: 13788425
RS ID: rs201623252
ClinVar ID: CV545211
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 133,339,514
GRCh38 9 130,464,127
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.380G>T
NG_011542.1:g.24421G>T
NC_000009.12:g.130464127G>T
NC_000009.11:g.133339514G>T
More...
04/25/2023 missense variant likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance argininosuccinate synthetase deficiency; ASS deficiency; Citrullinemia 1; Citrullinuria; Classic citrullinemia
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 L (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVLFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Gene Symbol:ASS1
Accession:NM_054012
Location:EXON
Amino Acid Prediction: R to L (nonsynonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVLFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Variant Samples
Additional References at PubMed
PMID:14680976   PMID:23099195   PMID:24889030   PMID:25741868   PMID:27287393   PMID:28111830   PMID:28492532   PMID:31208364   PMID:32860008  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000665366 CLINVAR
  RCV003594016 CLINVAR
dbSNP (RS) rs201623252 CLINVAR
MedGen C0175683 CLINVAR
  C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR