RGD:8599599 Rat Genome Database

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Variant: RGD:8599599 -  Homo sapiens

RGD ID: 8599599
RS ID: rs2279744
ClinVar ID: CV28943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC126861563  MDM2  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 69,202,580
GRCh38 12 68,808,800
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016708.1:g.5610T>G
NC_000012.12:g.68808800T>G
NC_000012.11:g.69202580T>G
NM_002392.4:c.14+309T>G
More...
10/09/2020 2kb upstream variant|intron|intron variant risk factor|benign
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MDM2
Accession:NM_002392
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145339
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145337
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001278462
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001145340
Location:INTRON

Gene Symbol:MDM2
Accession:NM_001367990
Location:INTRON

Gene Symbol:MDM2
Accession:XM_047428853
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15550242   PMID:16258005   PMID:17003841   PMID:17360557   PMID:19521721   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000014918 CLINVAR
dbSNP (RS) rs2279744 CLINVAR
MedGen C3280690 CLINVAR
NCBI Gene LOC126861563 CLINVAR
  MDM2 CLINVAR
OMIM 164785 CLINVAR
  614401 CLINVAR
OMIM Allele 164785.0001 CLINVAR