RGD:15190446 Rat Genome Database

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Variant: RGD:15190446 -  Homo sapiens

RGD ID: 15190446
RS ID: rs756703955
ClinVar ID: CV774652
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPS1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 211,452,878
GRCh38 2 210,588,154
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.711+7A>C
NM_001369257.1:c.711+7A>C
NM_001875.5:c.711+7A>C
NM_001369256.1:c.744+7A>C
More... 		03/04/2019 intron variant likely benign 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
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CPS1
Accession:NM_001369256
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001875
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001369257
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001122633
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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000932520 CLINVAR
dbSNP (RS) rs756703955 CLINVAR
MedGen C4082171 CLINVAR
NCBI Gene CPS1 CLINVAR
OMIM 237300 CLINVAR
  608307 CLINVAR
SNOMED CT 62522004 CLINVAR