RGD:127307030 Rat Genome Database

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Variant: RGD:127307030 -  Homo sapiens

RGD ID: 127307030
RS ID: rs527679047
ClinVar ID: CV1137371
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARG1  MED23  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 131,903,865
GRCh38 6 131,582,725
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001369020.1:c.306-335T>C
NM_001270521.2:c.4077+4984A>G
NM_015979.4:c.4095+4984A>G
NM_000045.4:c.560+10T>C
More... 		12/31/2019 intron variant likely benign ARG1 deficiency; Argininemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MED23
Accession:XM_006715612
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376518
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270521
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376517
Location:INTRON

Gene Symbol:ARG1
Accession:NM_001369020
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270522
Location:INTRON

Gene Symbol:MED23
Accession:XM_011536257
Location:INTRON

Gene Symbol:MED23
Accession:NM_015979
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376523
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376524
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376521
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376519
Location:INTRON

Gene Symbol:MED23
Accession:XM_047419565
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376522
Location:INTRON

Gene Symbol:MED23
Accession:NM_004830
Location:INTRON

Gene Symbol:ARG1
Accession:NM_000045
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376520
Location:INTRON

Gene Symbol:ARG1
Accession:NM_001244438
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001480226 CLINVAR
dbSNP (RS) rs527679047 CLINVAR
MedGen C0268548 CLINVAR
NCBI Gene ARG1 CLINVAR
  MED23 CLINVAR
OMIM 207800 CLINVAR
  605042 CLINVAR
  608313 CLINVAR
SNOMED CT 23501004 CLINVAR