RGD:14715528 Rat Genome Database

Variant: RGD:14715528 - Homo sapiens

RGD ID:

14715528

RS ID:

rs1601333461

ClinVar ID:

CV648957

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RUNX1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	36,164,799
GRCh38	21	34,792,502

JBrowse:

View Region in Genome Browser (JBrowse)

Model

Annotation Click to see Annotation Detail View

ClinVar Data

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001745.2:p.Pro359Arg NM_001754.5:c.1076C>G LRG_482t1:c.1076C>G NC_000021.9:g.34792502G>C More...	12/03/2018	missense 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

Familial Platelet Disorder with Associated Myeloid Malignancy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RUNX1
Accession:	XM_047441015
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	XM_047441013
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	283

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRT DSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKS FTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAE LSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPF QASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAV WRPY*

Gene Symbol:	RUNX1
Accession:	XM_011529767
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441011
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	295

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_011529766
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	NM_001754
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	XM_047441010
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441009
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_005261068
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	347

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRT DSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKS FTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRAS LNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSD PRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAG SYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_011529768
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	NM_001001890
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	332

Amino Acid Sequence (Calculated using NCBI transcript definition)
MRIPVDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTDSPNFLCSVLPTHWR CNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSFTLTITVFTNPPQVA TYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASLNHSTAFNPQPQSQM QDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRM HYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPR ILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441012
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	295

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441014
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	282

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	XM_005261069
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	295

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441007
Location:	EXON
Amino Acid Prediction:	P to R (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTRVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	XM_047441016
Location:	INTRON

Gene Symbol:	RUNX1
Accession:	XM_011529770
Location:	INTRON

Gene Symbol:	RUNX1
Accession:	NM_001122607
Location:	INTRON

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532	PMID:34166225

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000811247	CLINVAR
dbSNP (RS)	rs1601333461	CLINVAR
MedGen	C1832388	CLINVAR
NCBI Gene	RUNX1	CLINVAR
OMIM	151385	CLINVAR
	601399	CLINVAR

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

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Variant: RGD:14715528 - Homo sapiens

Imported Disease Annotations - ClinVar