RGD:21071564 Rat Genome Database

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Variant: RGD:21071564 -  Homo sapiens

RGD ID: 21071564
RS ID: rs1451472748
ClinVar ID: CV790586
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARG1  MED23  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 6 131,902,457
GRCh38 6 131,581,317
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.306-1743C>T
NP_001231367.1:p.Thr143Ile
NM_000045.4:c.404C>T
NM_015979.4:c.4095+6392G>A
More... 		08/08/2022 intron variant pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance ARG1 deficiency; Argininemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARG1
Accession:NM_001244438
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 143
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQVTQNFLILECDVKDYGDLPFADIPNDSPFQIVKNPRS
VGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTITSGNLHGQPVSFLLKEL
KGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFD
VDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNH
KPIDYLNPPK*

Gene Symbol:ARG1
Accession:NM_000045
Location:EXON
Amino Acid Prediction: T to I (nonsynonymous)
Amino Acid Position: 135
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQL
AGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTITSGNLHGQPVSFLLKELKGKIPDVP
GFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSF
TPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNP
PK*

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

Gene Symbol:MED23
Accession:NM_001270521
Location:INTRON

Gene Symbol:MED23
Accession:NM_004830
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270522
Location:INTRON

Gene Symbol:MED23
Accession:XM_006715612
Location:INTRON

Gene Symbol:MED23
Accession:XM_011536257
Location:INTRON

Gene Symbol:MED23
Accession:NM_015979
Location:INTRON

Gene Symbol:MED23
Accession:XM_047419565
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376518
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376520
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376521
Location:INTRON

Gene Symbol:ARG1
Accession:NM_001369020
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376524
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376523
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376522
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376519
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376517
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:22959135   PMID:25741868   PMID:27038030   PMID:28492532   PMID:29726057   PMID:34782662  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000987781 CLINVAR
  RCV002252281 CLINVAR
dbSNP (RS) rs1451472748 CLINVAR
MedGen C0268548 CLINVAR
NCBI Gene ARG1 CLINVAR
  MED23 CLINVAR
OMIM 207800 CLINVAR
  605042 CLINVAR
  608313 CLINVAR
SNOMED CT 23501004 CLINVAR