RGD:26887851 Rat Genome Database

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Variant: RGD:26887851 -  Homo sapiens

RGD ID: 26887851
RS ID: rs866812011
ClinVar ID: CV853004
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUNX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 36,171,762
GRCh38 21 34,799,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001754.5:c.806-3C>T
LRG_482:g.1190247C>T
NG_011402.2:g.1190247C>T
NC_000021.9:g.34799465G>A
More... 		02/15/2019 intron variant uncertain significance Familial platelet disorder with associated myeloid malignancy; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; Familial thrombocytopenia with propensity to acute myelogenous leukemia; Platelet disorder, Aspirin-like
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:RUNX1
Accession:XM_047441014
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_005261068
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441010
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441013
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_005261069
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_011529766
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441012
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441007
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001122607
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441016
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_011529767
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001001890
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_011529770
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441015
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441009
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441011
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001754
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_011529768
Location:INTRON

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


Additional Information

Database Acc Id Source(s)
ClinVar RCV001039054 CLINVAR
dbSNP (RS) rs866812011 CLINVAR
MedGen C1832388 CLINVAR
NCBI Gene RUNX1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR