RGD:11635824 Rat Genome Database

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Variant: RGD:11635824 -  Homo sapiens

RGD ID: 11635824
RS ID: rs758735909
ClinVar ID: CV346412
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUNX1  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 21 36,421,537
GRCh38 21 35,049,240
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.-132G>C
LRG_482:g.940472G>C
NG_011402.2:g.940472G>C
NC_000021.9:g.35049240C>G
More... 		01/12/2018 5 prime utr variant 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_011529770
Location:5UTRS;EXON

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

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

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

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

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

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

Gene Symbol:RUNX1
Accession:XM_047441014
Location:5UTRS;EXON

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

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

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

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

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

Gene Symbol:RUNX1
Accession:XM_047441016
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_005261068
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001001890
Location:INTRON

Gene Symbol:RUNX1
Accession:NM_001122607
Location:INTRON

Gene Symbol:RUNX1
Accession:XM_047441013
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000400568 CLINVAR
dbSNP (RS) rs758735909 CLINVAR
MedGen C1832388 CLINVAR
NCBI Gene RUNX1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR