RGD:11560320 Rat Genome Database

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Variant: RGD:11560320 -  Homo sapiens

RGD ID: 11560320
RS ID: rs575001023
ClinVar ID: CV260670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 9 133,333,870
GRCh38 9 130,458,483
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.257G>A
NG_011542.1:g.18777G>A
NC_000009.12:g.130458483G>A
NC_000009.11:g.133333870G>A
More... 		09/15/2020 missense variant pathogenic|likely pathogenic|not provided all ages 1-9 / 100 000 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 H (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDHYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Gene Symbol:ASS1
Accession:NM_054012
Location:EXON
Amino Acid Prediction: R to H (nonsynonymous)
Amino Acid Position: 86
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDHYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENRFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*
Variant Samples
Additional References at PubMed
PMID:1943692   PMID:12815590   PMID:25433810   PMID:28132756   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000256238 CLINVAR
  RCV001376558 CLINVAR
  RCV001582905 CLINVAR
dbSNP (RS) rs575001023 CLINVAR
MedGen C0175683 CLINVAR
  C3661900 CLINVAR
  C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR