RGD:8659100 Rat Genome Database

Variant: RGD:8659100 - Homo sapiens

RGD ID:

8659100

RS ID:

rs75383960

ClinVar ID:

CV133974

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BLK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	11,400,835
GRCh38	8	11,543,326

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
NC_000008.11:g.11543326C>T NC_000008.10:g.11400835C>T NP_001706.2:p.Asp34= NM_001330465.2:c.-90-2726C>T More...	06/12/2018	intron variant\|synonymous variant	benign\|likely benign\|conflicting interpretations of pathogenicity	AllHighlyPenetrant; none provided

Disease Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young type 11 (IAGP)

systemic lupus erythematosus (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Systemic lupus erythematosus (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	BLK
Accession:	NM_001330465
Location:	5UTRS;INTRON

Gene Symbol:	BLK
Accession:	XM_011543827
Location:	5UTRS;INTRON

Gene Symbol:	BLK
Accession:	XM_011543824
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:	BLK
Accession:	XM_011543825
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:	BLK
Accession:	XM_047422083
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER PTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:	BLK
Accession:	XM_011543829
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTMS CSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:	BLK
Accession:	XM_011543828
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMEVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTM SCSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:	BLK
Accession:	XM_047422081
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGGA PRRAASSERGGRAGLSRRRRVRCGCLLDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCC KIADFGLARIIDSEYTAQEGAKFPIKWTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRM PRPDTCPPELYRGVIAECWRSRPEERPTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:	BLK
Accession:	XM_047422082
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER PTFEFLQSVLEDFYTATERQYELQP*

Gene Symbol:	BLK
Accession:	XM_047422084
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMVLRGSEDRGEDTHFTEEEVEVQSRVVTAGTAYGGGRAGTESSSPSPEVAPSFVLCLKLALTMS CSGALTPLSFSSPRWKQEVKRDEP*

Gene Symbol:	BLK
Accession:	NM_001715
Location:	EXON
Amino Acid Prediction:	D to D (synonymous)
Amino Acid Position:	34

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGLVSSKKPDKEKPIKEKDKGQWSPLKVSAQDKDAPPLPPLVVFNHLTPPPPDEHLDEDKHFVVALYDYTAMNDRDLQML KGEKLQVLKGTGDWWLARSLVTGREGYVPSNFVARVESLEMERWFFRSQGRKEAERQLLAPINKAGSFLIRESETNKGAF SLSVKDVTTQGELIKHYKIRCLDEGGYYISPRITFPSLQALVQHYSKKGDGLCQRLTLPCVRPAPQNPWAQDEWEIPRQS LRLVRKLGSGQFGEVWMGYYKNNMKVAIKTLKEGTMSPEAFLGEANVMKALQHERLVRLYAVVTKEPIYIVTEYMARGCL LDFLKTDEGSRLSLPRLIDMSAQIAEGMAYIERMNSIHRDLRAANILVSEALCCKIADFGLARIIDSEYTAQEGAKFPIK WTAPEAIHFGVFTIKADVWSFGVLLMEVVTYGRVPYPGMSNPEVIRNLERGYRMPRPDTCPPELYRGVIAECWRSRPEER PTFEFLQSVLEDFYTATERQYELQP*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional References at PubMed

PMID:18204098	PMID:19667185	PMID:24023612	PMID:25741868	PMID:28492532	PMID:31670388	PMID:32313195

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000116495	CLINVAR
	RCV000274248	CLINVAR
	RCV000887414	CLINVAR
	RCV002464110	CLINVAR
dbSNP (RS)	rs75383960	CLINVAR
MedGen	C0024141	CLINVAR
	C3150618	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	BLK	CLINVAR
OMIM	152700	CLINVAR
	191305	CLINVAR
	613375	CLINVAR
SNOMED CT	55464009	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)

Variant: RGD:8659100 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:8659100 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar