RGD:14739911 Rat Genome Database

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Variant: RGD:14739911 -  Homo sapiens

RGD ID: 14739911
RS ID: rs375785288
ClinVar ID: CV658873
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPS1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 2 211,541,865
GRCh38 2 210,677,141
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122633.3:c.4404+5A>T
NM_001369257.1:c.4404+5A>T
NM_001875.5:c.4404+5A>T
NM_001369256.1:c.4437+5A>T
More... 		07/28/2022 intron variant likely benign|uncertain significance Carbamoyl phosphate synthetase 1 deficiency; Carbamoyl phosphate synthetase I deficiency disease; Carbamoyl-phosphate synthase I deficiency; Carbamyl phosphate synthetase (CPS) deficiency; CPS 1 deficiency; CPS I DEFICIENCY; Hyperammonemia due to carbamoyl phosphate synthetase 1 deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPS1
Accession:NM_001369257
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001122633
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001875
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001369256
Location:INTRON

Gene Symbol:CPS1
Accession:NR_163592
Location:INTRON;NON-CODING

Gene Symbol:CPS1
Accession:NR_161225
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000840108 CLINVAR
  RCV001141272 CLINVAR
dbSNP (RS) rs375785288 CLINVAR
MedGen C4082171 CLINVAR
  CN517202 CLINVAR
NCBI Gene CPS1 CLINVAR
OMIM 237300 CLINVAR
  608307 CLINVAR
SNOMED CT 62522004 CLINVAR