RGD:151803350 Rat Genome Database

Variant: RGD:151803350 - Homo sapiens

RGD ID:

151803350

RS ID:

rs2149196136

ClinVar ID:

CV1442496

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IL6R IL6R-AS1

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	1	154,378,152
GRCh38	1	154,405,676

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_000565.4:c.47C>T NM_001206866.2:c.47C>T NM_001382769.1:c.47C>T NM_001382770.1:c.47C>T More...	08/05/2021	missense variant	uncertain significance	none provided

Variant Details

Variant Transcripts

Gene Symbol:	IL6R
Accession:	NM_001382770
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTEMRS HYVTQAGFKLLASWDSPASVSQSAGITESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLV AGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPD ARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	NM_000565
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEG KTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	NM_001206866
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTDRLS PRCPGWSTAVQSQLTATSASWVQAILPPQPPK*

Gene Symbol:	IL6R
Accession:	XM_005245139
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMNPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMRQASQVQEDVEAAGSEG RQDKHASAVLFGAAGPGEASTHPSACSSHLPTGVPQQPGV*

Gene Symbol:	IL6R
Accession:	XM_047419657
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR QASQCKILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:	IL6R
Accession:	XM_017001199
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQK SHSEMQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPP VSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	NM_001382771
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAI VLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDY FFPR*

Gene Symbol:	IL6R
Accession:	XM_047419656
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMNPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMRQASQELPSRRSPKPSV CCTLFVPCGSRWNVTRKATLKCKILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:	IL6R
Accession:	XM_047419654
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR QASQELPSRRSPKPSVCCTLFVPCGSRWNVTRKATLKCKILLQYHCPHSWLLEGAWPSERSSALPLF*

Gene Symbol:	IL6R
Accession:	NM_181359
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGSRRRGSCGL*

Gene Symbol:	IL6R
Accession:	NM_001382769
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRS PPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGTAIKEVPKAFRLLYPLCALWEQVECHQKSHSEMQDSSSVPLPTF LVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNR PDARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	NM_001382774
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGS KFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQDPHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIH DAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSS SVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKTSMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSD NTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	XM_047419655
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMASLHRPSRVAFGTQLENPGVLQLRTRCPPPCRHLLLIKTMIIFSSEILQMR QASQVQEDVEAAGSEGRQDKHASAVLFGAAGPGEASTHPSACSSHLPTGVPQQPGV*

Gene Symbol:	IL6R
Accession:	NM_001382773
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMVKDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTGFSP QTIPGGIWDPAGESRSPPAENEVSTPMQALTTNKDDDNILFRDSANATSLPGSRRRGSCGL*

Gene Symbol:	IL6R
Accession:	NM_001382772
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	16

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLAVGCALLAALLAALGAALAPRRCPAQEVARGVLTSLPGDSVTLTCPGVEPEDNATVHWVLRKPAAGSHPSRWAGMGRR LLLRSVQLHDSGNYSCYRAGRPAGTVHLLVDVPPEEPQLSCFRKSPLSNVVCEWGPRSTPSLTTKAVLLVRKFQNSPAED FQEPCQYSQESQKFSCQLAVPEGDSSFYIVSMCVASSVGSKFSKTQTFQGCGILQPDPPANITVTAVARNPRWLSVTWQD PHSWNSSFYRLRFELRYRAERSKTFTTWMDLQHHCVIHDAWSGLRHVVQLRAQEEFGQGEWSEWSPEAMGTPWTESRSPP AENEVSTPMQALTTNKDDDNILFRDSANATSLPVQDSSSVPLPTFLVAGGSLAFGTLLCIAIVLRFKKTWKLRALKEGKT SMHPPYSLGQLVPERPRPTPVLVPLISPPVSPSSLGSDNTSSHNRPDARDPRSPYDISNTDYFFPR*

Gene Symbol:	IL6R
Accession:	XM_047419650
Location:	INTRON

Gene Symbol:	IL6R
Accession:	XM_047419649
Location:	INTRON

Gene Symbol:	IL6R
Accession:	XM_047419648
Location:	INTRON

Gene Symbol:	IL6R-AS1
Accession:	NR_147855
Location:	INTRON;NON-CODING

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:28492532

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV002011772	CLINVAR
dbSNP (RS)	rs2149196136	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	IL6R	CLINVAR
	IL6R-AS1	CLINVAR
OMIM	147880	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:151803350 - Homo sapiens