RGD:11596179 Rat Genome Database

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Variant: RGD:11596179 -  Homo sapiens

RGD ID: 11596179
RS ID: rs10932349
ClinVar ID: CV284567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CPS1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 2 211,543,089
GRCh38 2 210,678,365
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
LRG_336t1:c.*380C>G
LRG_336:g.205681C>G
NG_008285.1:g.205681C>G
NC_000002.12:g.210678365C>G
More... 		01/13/2018 3 prime utr variant benign|likely benign all ages 1-9 / 1 000 000 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_001122633
Location:3UTRS;EXON

Gene Symbol:CPS1
Accession:NM_001369257
Location:3UTRS;EXON

Gene Symbol:CPS1
Accession:NM_001369256
Location:3UTRS;EXON

Gene Symbol:CPS1
Accession:NM_001875
Location:3UTRS;EXON

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000379437 CLINVAR
dbSNP (RS) rs10932349 CLINVAR
MedGen C4082171 CLINVAR
NCBI Gene CPS1 CLINVAR
OMIM 237300 CLINVAR
  608307 CLINVAR
SNOMED CT 62522004 CLINVAR