RGD:402523452 Rat Genome Database

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Variant: RGD:402523452 -  Homo sapiens

RGD ID: 402523452
ClinVar ID: CV3032121
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ARG1  MED23  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 6 131,902,410
GRCh38 6 131,581,270
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.306-1790A>C
NM_000045.4:c.357A>C
NM_001244438.2:c.381A>C
NM_001270521.2:c.4077+6439T>G
More... 		12/07/2023 intron variant likely benign ARG1 deficiency; Argininemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ARG1
Accession:NM_000045
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 119
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQECDVKDYGDLPFADIPNDSPFQIVKNPRSVGKASEQL
AGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKELKGKIPDVP
GFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFDVDGLDPSF
TPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNHKPIDYLNP
PK*

Gene Symbol:ARG1
Accession:NM_001244438
Location:EXON
Amino Acid Prediction: G to G (synonymous)
Amino Acid Position: 127
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSAKSRTIGIIGAPFSKGQPRGGVEEGPTVLRKAGLLEKLKEQVTQNFLILECDVKDYGDLPFADIPNDSPFQIVKNPRS
VGKASEQLAGKVAEVKKNGRISLVLGGDHSLAIGSISGHARVHPDLGVIWVDAHTDINTPLTTTSGNLHGQPVSFLLKEL
KGKIPDVPGFSWVTPCISAKDIVYIGLRDVDPGEHYILKTLGIKYFSMTEVDRLGIGKVMEETLSYLLGRKKRPIHLSFD
VDGLDPSFTPATGTPVVGGLTYREGLYITEEIYKTGLLSGLDIMEVNPSLGKTPEEVTRTVNTAVAITLACFGLAREGNH
KPIDYLNPPK*

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

Gene Symbol:MED23
Accession:NM_015979
Location:INTRON

Gene Symbol:MED23
Accession:NM_004830
Location:INTRON

Gene Symbol:MED23
Accession:NM_001270521
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:ARG1
Accession:NM_001369020
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376518
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376523
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376524
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376522
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376521
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376519
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376520
Location:INTRON

Gene Symbol:MED23
Accession:NM_001376517
Location:INTRON

Gene Symbol:MED23
Accession:XM_047419565
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003602697 CLINVAR
MedGen C0268548 CLINVAR
NCBI Gene ARG1 CLINVAR
  MED23 CLINVAR
OMIM 207800 CLINVAR
  605042 CLINVAR
  608313 CLINVAR
SNOMED CT 23501004 CLINVAR