RGD:12840180 Rat Genome Database

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Variant: RGD:12840180 -  Homo sapiens

RGD ID: 12840180
RS ID: rs1049378713
ClinVar ID: CV374530
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATM  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 15 45,660,265
GRCh38 15 45,368,067
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_011674.2:g.39251G>C
NC_000015.10:g.45368067C>G
NC_000015.9:g.45660265C>G
NM_001321015.2:c.288+3G>C
More... 		09/23/2020 intron variant likely benign|uncertain significance AGAT deficiency; AllHighlyPenetrant; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY; GATM DEFICIENCY; L-Arginine:Glycine Amidinotransferase Deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATM
Accession:XM_047432387
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432386
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432385
Location:INTRON

Gene Symbol:GATM
Accession:NM_001321015
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432388
Location:INTRON

Gene Symbol:GATM
Accession:NM_001482
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430198 CLINVAR
  RCV001363967 CLINVAR
dbSNP (RS) rs1049378713 CLINVAR
MedGen C2675179 CLINVAR
  CN169374 CLINVAR
NCBI Gene GATM CLINVAR
OMIM 602360 CLINVAR
  612718 CLINVAR
SNOMED CT 702440000 CLINVAR