RGD:127290737 Rat Genome Database

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Variant: RGD:127290737 -  Homo sapiens

RGD ID: 127290737
RS ID: rs937283
ClinVar ID: CV1157035
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MDM2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 69,202,164
GRCh38 12 68,808,384
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145339.2:c.-94A>G
NM_002392.6:c.-94A>G
NG_016708.1:g.5194A>G
NC_000012.12:g.68808384A>G
More... 		09/01/2020 5 prime utr variant benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MDM2
Accession:NM_001145339
Location:5UTRS;EXON

Gene Symbol:MDM2
Accession:NM_002392
Location:5UTRS;EXON

Gene Symbol:MDM2
Accession:NM_001145337
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001367990
Location:INTRON

Gene Symbol:MDM2
Accession:XM_047428853
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001278462
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145340
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001509968 CLINVAR
dbSNP (RS) rs937283 CLINVAR
MedGen C3280690 CLINVAR
NCBI Gene MDM2 CLINVAR
OMIM 164785 CLINVAR
  614401 CLINVAR