RGD:11635733 Rat Genome Database

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Variant: RGD:11635733 -  Homo sapiens

RGD ID: 11635733
RS ID: rs188246960
ClinVar ID: CV346369
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUNX1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 36,160,711
GRCh38 21 34,788,414
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Prevalence Trait Synonyms
LRG_482t1:c.*3721A>T
LRG_482:g.1201298A>T
NG_011402.2:g.1201298A>T
NC_000021.9:g.34788414T>A
More...
05/13/2020 3 prime utr variant benign|likely benign|uncertain significance <1 / 1 000 000 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_011529768
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_011529767
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_005261069
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_011529766
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:NM_001754
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_005261068
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:NM_001001890
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441015
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441010
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441012
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441014
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441009
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441011
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441007
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441013
Location:3UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_011529770
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001122607
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441016
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000389499 CLINVAR
  RCV001195681 CLINVAR
dbSNP (RS) rs188246960 CLINVAR
MedGen C1832388 CLINVAR
  CN281654 CLINVAR
NCBI Gene RUNX1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR