RGD:14735698 Rat Genome Database

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Variant: RGD:14735698 -  Homo sapiens

RGD ID: 14735698
RS ID: rs1248488974
ClinVar ID: CV648983
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RUNX1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 21 36,421,184
GRCh38 21 35,048,887
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001754.4:c.13A>G
NC_000021.9:g.35048887T>C
NC_000021.8:g.36421184T>C
LRG_482p1:p.Ser5Gly
More...
10/19/2019 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


Variant Details
Variant Transcripts
Gene Symbol:RUNX1
Accession:XM_011529768
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL
SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ
ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW
RPY*

Gene Symbol:RUNX1
Accession:XM_011529767
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL
NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP
RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS
YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_005261069
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP
GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP
YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT
NMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_011529766
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP
HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR
LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS
PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
*

Gene Symbol:RUNX1
Accession:NM_001754
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP
HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR
LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS
PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
*

Gene Symbol:RUNX1
Accession:XM_011529770
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP
HHPAPTPNPRASLNHSTAFNPQPQSQMQEEDTAPWRC*

Gene Symbol:RUNX1
Accession:XM_047441015
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL
SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ
ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW
RPY*

Gene Symbol:RUNX1
Accession:XM_047441010
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL
NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP
RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS
YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_047441012
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP
GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP
YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT
NMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_047441014
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAEL
SSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQ
ASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVW
RPY*

Gene Symbol:RUNX1
Accession:XM_047441009
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVEVLADHPGELVRTD
SPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFNDLRFVGRSGRGKSF
TLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSPHHPAPTPNPRASL
NHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSRLSTAPDLTAFSDP
RQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASSPSYHLYYGASAGS
YQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_047441011
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRNTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISP
GRASGMTTLSAELSSRLSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPP
YPGSSQAQGGPFQASSPSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPT
NMAPSARLEEAVWRPY*

Gene Symbol:RUNX1
Accession:XM_047441007
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 5
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MASDGIFESFPSYPQCFMRECILGMNPSRDVHDASTSRRFTPPSTALSPGKMSEALPLGAPDAGAALAGKLRSGDRSMVE
VLADHPGELVRTDSPNFLCSVLPTHWRCNKTLPIAFKVVALGDVPDGTLVTVMAGNDENYSAELRNATAAMKNQVARFND
LRFVGRSGRGKSFTLTITVFTNPPQVATYHRAIKITVDGPREPRRHRQKLDDQTKPGSLSFSERLSELEQLRRTAMRVSP
HHPAPTPNPRASLNHSTAFNPQPQSQMQDTRQIQPSPPWSYDQSYQYLGSIASPSVHPATPISPGRASGMTTLSAELSSR
LSTAPDLTAFSDPRQFPALPSISDPRMHYPGAFTYSPTPVTSGIGIGMSAMGSATRYHTYLPPPYPGSSQAQGGPFQASS
PSYHLYYGASAGSYQFSMVGGERSPPRILPPCTNASTGSALLNPSLPNQSDVVEAEGSHSNSPTNMAPSARLEEAVWRPY
*

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

Gene Symbol:RUNX1
Accession:XM_047441016
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000803292 CLINVAR
dbSNP (RS) rs1248488974 CLINVAR
MedGen C1832388 CLINVAR
NCBI Gene RUNX1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR