RGD:11664804 Rat Genome Database

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Variant: RGD:11664804 -  Homo sapiens

RGD ID: 11664804
RS ID: rs7164139
ClinVar ID: CV340655
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GATM  LOC130056991  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 15 45,670,851
GRCh38 15 45,378,653
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
NC_000015.10:g.45378653G>A
NC_000015.9:g.45670851G>A
NG_011674.2:g.28665C>T
NM_001321015.2:c.-319+1831C>T
More... 		06/14/2016 5 prime utr variant|intron variant benign infancy <1 / 1 000 000 AGAT deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; CREATINE DEFICIENCY SYNDROME DUE TO AGAT DEFICIENCY; GATM DEFICIENCY; L-Arginine:Glycine Amidinotransferase Deficiency; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:GATM
Accession:XM_047432385
Location:5UTRS;EXON

Gene Symbol:GATM
Accession:XM_047432388
Location:5UTRS;INTRON

Gene Symbol:GATM
Accession:NM_001321015
Location:5UTRS;INTRON

Gene Symbol:GATM
Accession:NM_001482
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432386
Location:INTRON

Gene Symbol:GATM
Accession:XM_047432387
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000323797 CLINVAR
  RCV001533998 CLINVAR
dbSNP (RS) rs7164139 CLINVAR
MedGen C2675179 CLINVAR
  C3661900 CLINVAR
NCBI Gene GATM CLINVAR
  LOC130056991 CLINVAR
OMIM 602360 CLINVAR
  612718 CLINVAR
SNOMED CT 702440000 CLINVAR