RGD:11610868 Rat Genome Database

Variant: RGD:11610868 - Homo sapiens

RGD ID:

11610868

RS ID:

rs769734763

ClinVar ID:

CV312598

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

BLK

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	8	11,400,774
GRCh38	8	11,543,265

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.11543265C>T NC_000008.10:g.11400774C>T NP_001706.2:p.Pro14Leu NG_023543.2:g.54254C>T More...	06/14/2016	intron variant	uncertain significance	Mason type diabetes

Disease Annotations Click to see Annotation Detail View

maturity-onset diabetes of the young (IAGP)

Variant Details

Variant Transcripts

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

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

Gene Symbol:	BLK
Accession:	XM_047422082
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_047422084
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_011543828
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_047422081
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	NM_001715
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_011543829
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_011543824
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_047422083
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Gene Symbol:	BLK
Accession:	XM_011543825
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	14

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

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000387495	CLINVAR
dbSNP (RS)	rs769734763	CLINVAR
MedGen	C0342276	CLINVAR
NCBI Gene	BLK	CLINVAR
OMIM	191305	CLINVAR
	606391	CLINVAR
SNOMED CT	28453007	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:11610868 - Homo sapiens

Imported Disease Annotations - ClinVar