RGD:13525830 Rat Genome Database

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Variant: RGD:13525830 -  Homo sapiens

RGD ID: 13525830
ClinVar ID: CV512806
Genic Status: GENIC
Type: deletion (SO:0000159) 
Associated Genes: CPS1  
Reference Nucleotide: T
Variant Nucleotide: -
Position
Assembly Chr Position
GRCh37 2 211,527,829
GRCh38 2 210,663,105
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001122633.2:c.3946-18delT
NG_008285.1:g.190421delT
LRG_336:g.190421delT
NC_000002.12:g.210663105delT
More... 		05/18/2015 intron variant likely benign Carbamoyl phosphate synthetase 1 deficiency; CPS I DEFICIENCY

Variant Details
Variant Transcripts
Gene Symbol:CPS1
Accession:NM_001122633
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001369256
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001369257
Location:INTRON

Gene Symbol:CPS1
Accession:NM_001875
Location:INTRON

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

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

Variant Samples