RGD:11601369 Rat Genome Database

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Variant: RGD:11601369 -  Homo sapiens

RGD ID: 11601369
RS ID: rs202219126
ClinVar ID: CV306022
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARG1  MED23  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 131,905,023
GRCh38 6 131,583,883
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.15659T>C
NC_000006.12:g.131583883T>C
NP_000036.2:p.Ile315Thr
NM_001270521.2:c.4077+3826A>G
More... 		12/31/2019 intron variant|missense variant likely benign|conflicting interpretations of pathogenicity|uncertain significance childhood <1 / 1 000 000 ARG1 deficiency; Argininemia; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARG1
Accession:NM_000045
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 315
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQL
AGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVP
GFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSF
TPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPTDYLNP
PK*

Gene Symbol:ARG1
Accession:NM_001244438
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 323
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQVTQNFLILECDVKDYGDLPFADIPNDSPFQIVKNPRS
VGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKEL
KGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFD
VDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNH
KPTDYLNPPK*

Gene Symbol:ARG1
Accession:NM_001369020
Location:EXON
Amino Acid Prediction: I to T (nonsynonymous)
Amino Acid Position: 230
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQL
AGKVAEVKKNGRISLVLGGDHSYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSFTPATG
TPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPTDYLNPPK*

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

Gene Symbol:MED23
Accession:NM_015979
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270521
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376522
Location:INTRON

Gene Symbol:MED23
Accession:NM_004830
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376519
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270522
Location:INTRON

Gene Symbol:MED23
Accession:XM_006715612
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376517
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376518
Location:INTRON

Gene Symbol:MED23
Accession:XM_047419565
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376524
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376521
Location:INTRON

Gene Symbol:MED23
Accession:XM_011536257
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376523
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376520
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000281645 CLINVAR
  RCV003325480 CLINVAR
dbSNP (RS) rs202219126 CLINVAR
MedGen C0268548 CLINVAR
  C3661900 CLINVAR
NCBI Gene ARG1 CLINVAR
  MED23 CLINVAR
OMIM 207800 CLINVAR
  605042 CLINVAR
  608313 CLINVAR
SNOMED CT 23501004 CLINVAR