RGD:13811028 Rat Genome Database

Variant: RGD:13811028 - Homo sapiens

RGD ID:

13811028

RS ID:

rs1205896319

ClinVar ID:

CV575154

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

RUNX1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	21	36,164,607
GRCh38	21	34,792,310

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
NM_001754.4:c.1268G>C NP_001745.2:p.Arg423Pro LRG_482t1:c.1268G>C LRG_482:g.1197402G>C More...	07/05/2022	missense variant	uncertain significance	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; Neoplastic Syndromes, Hereditary; Platelet disorder, Aspirin-like; Tumor predisposition

Disease Annotations Click to see Annotation Detail View

Familial Platelet Disorder with Associated Myeloid Malignancy (IAGP)

genetic disease (IAGP)

Hereditary Neoplastic Syndromes (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	RUNX1
Accession:	XM_011529766
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	423

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	XM_047441015
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	XM_047441010
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	410

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441013
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	347

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRT DSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKS FTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAE LSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPF QASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAV WRPY*

Gene Symbol:	RUNX1
Accession:	XM_011529768
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	XM_005261069
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	NM_001754
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	423

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	XM_011529767
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	410

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_005261068
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	411

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPAAPRGPAQGEAAARTRSRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRT DSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKS FTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRAS LNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSD PRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAG SYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441014
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	346

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ ASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW RPY*

Gene Symbol:	RUNX1
Accession:	XM_047441009
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	410

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS YQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441007
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	423

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS PSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY *

Gene Symbol:	RUNX1
Accession:	NM_001001890
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	396

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

Gene Symbol:	RUNX1
Accession:	XM_047441011
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

Gene Symbol:	RUNX1
Accession:	XM_047441012
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	359

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASDSIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGEPSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT NMAPSARLEEAVWRPY*

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

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000702883	CLINVAR
	RCV002256484	CLINVAR
	RCV002264729	CLINVAR
	RCV002533669	CLINVAR
dbSNP (RS)	rs1205896319	CLINVAR
MedGen	C0027672	CLINVAR
	C0950123	CLINVAR
	C1832388	CLINVAR
	CN281654	CLINVAR
NCBI Gene	RUNX1	CLINVAR
OMIM	151385	CLINVAR
	601399	CLINVAR
SNOMED CT	699346009	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:13811028 - Homo sapiens

Imported Disease Annotations - ClinVar