RGD:12739285 Rat Genome Database

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Variant: RGD:12739285 -  Homo sapiens

RGD ID: 12739285
RS ID: rs762387914
ClinVar ID: CV357781
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ASS1  LOC127816316  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 9 133,355,812
GRCh38 9 130,480,425
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.814C>T
NG_011542.1:g.40719C>T
NC_000009.12:g.130480425C>T
NC_000009.11:g.133355812C>T
More... 		12/17/2016 missense variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity all ages 1-9 / 100 000 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 C (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENCFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*

Gene Symbol:ASS1
Accession:NM_054012
Location:EXON
Amino Acid Prediction: R to C (nonsynonymous)
Amino Acid Position: 272
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSSKGSVVLAYSGGLDTSCILVWLKEQGYDVIAYLANIGQKEDFEEARKKALKLGAKKVFIEDVSREFVEEFIWPAIQSS
ALYEDRYLLGTSLARPCIARKQVEIAQREGAKYVSHGATGKGNDQVRFELSCYSLAPQIKVIAPWRMPEFYNRFKGRNDL
MEYAKQHGIPIPVTPKNPWSMDENLMHISYEAGILENPKNQAPPGLYTKTQDPAKAPNTPDILEIEFKKGVPVKVTNVKD
GTTHQTSLELFMYLNEVAGKHGVGRIDIVENCFIGMKSRGIYETPAGTILYHAHLDIEAFTMDREVRKIKQGLGLKFAEL
VYTGFWHSPECEFVRHCIAKSQERVEGKVQVSVLKGQVYILGRESPLSLYNEELVSMNVQGDYEPTDATGFININSLRLK
EYHRLQSKVTAK*
Variant Samples
Additional References at PubMed
PMID:7977368   PMID:8792870   PMID:12815590   PMID:22768672   PMID:25741868   PMID:27287393   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000409266 CLINVAR
  RCV001376574 CLINVAR
dbSNP (RS) rs762387914 CLINVAR
MedGen C0175683 CLINVAR
  C4721769 CLINVAR
NCBI Gene ASS1 CLINVAR
OMIM 215700 CLINVAR
  603470 CLINVAR
SNOMED CT 398680004 CLINVAR