RGD:11635815 Rat Genome Database

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Variant: RGD:11635815 -  Homo sapiens

RGD ID: 11635815
RS ID: rs578080277
ClinVar ID: CV336745
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUNX1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 21 36,421,265
GRCh38 21 35,048,968
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.-59-10C>T
LRG_482:g.940744C>T
NG_011402.2:g.940744C>T
NC_000021.9:g.35048968G>A
More... 		10/19/2021 intron variant likely benign|uncertain significance <1 / 1 000 000 Acute granulocytic leukemia; Acute myelogenous leukemia; Acute myeloid leukemia; Acute myeloid leukemia, adult; Acute non-lymphocytic leukemia; AML adult; Cancer predisposition; Familial platelet disorder with associated myeloid malignancy; Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; Familial thrombocytopenia with propensity to acute myelogenous leukemia; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Leukemia, acute myelogenous, somatic; Leukemia, acute myeloid, somatic; Neoplastic Syndromes, Hereditary; Platelet disorder, Aspirin-like; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RUNX1
Accession:XM_047441014
Location:5UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441009
Location:5UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441007
Location:5UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_047441011
Location:5UTRS;EXON

Gene Symbol:RUNX1
Accession:XM_011529770
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_011529766
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_011529768
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_005261069
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_047441010
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_047441012
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_011529767
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_047441015
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:NM_001754
Location:5UTRS;INTRON

Gene Symbol:RUNX1
Accession:XM_005261068
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001122607
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001001890
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441013
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441016
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000399734 CLINVAR
  RCV002258879 CLINVAR
  RCV002487501 CLINVAR
dbSNP (RS) rs578080277 CLINVAR
MedGen C0027672 CLINVAR
  C1832388 CLINVAR
NCBI Gene RUNX1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR
  601626 CLINVAR
SNOMED CT 17788007 CLINVAR
  699346009 CLINVAR