RGD:11599931 Rat Genome Database

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Variant: RGD:11599931 -  Homo sapiens

RGD ID: 11599931
RS ID: rs370747314
ClinVar ID: CV305790
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARG1  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 131,894,402
GRCh38 6 131,573,262
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
NG_007086.2:g.5038A>C
NC_000006.12:g.131573262A>C
NC_000006.11:g.131894402A>C
NM_001244438.2:c.-21A>C
More... 		05/19/2022 5 prime utr variant uncertain significance childhood <1 / 1 000 000 ARG1 deficiency; Argininemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARG1
Accession:NM_000045
Location:5UTRS;EXON

Gene Symbol:ARG1
Accession:NM_001369020
Location:5UTRS;EXON

Gene Symbol:ARG1
Accession:NM_001244438
Location:5UTRS;EXON

Gene Symbol:ARG1
Accession:NR_160934
Location:EXON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000269759 CLINVAR
dbSNP (RS) rs370747314 CLINVAR
MedGen C0268548 CLINVAR
NCBI Gene ARG1 CLINVAR
OMIM 207800 CLINVAR
  608313 CLINVAR
SNOMED CT 23501004 CLINVAR