RGD:11589864 Rat Genome Database

Variant: RGD:11589864 - Homo sapiens

RGD ID:

11589864

RS ID:

rs371005251

ClinVar ID:

CV299210

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

PDE6B

Reference Nucleotide:

Variant Nucleotide:

Position

Assembly	Chr	Position
GRCh37	4	663,917
GRCh38	4	670,128

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
NG_009839.1:g.49555C>T NC_000004.12:g.670128C>T NC_000004.11:g.663917C>T NP_001337084.1:p.Leu456= More...	01/13/2018	3 prime utr variant	benign\|likely benign	NIGHT BLINDNESS, CONGENITAL STATIONARY, RAMBUSCH TYPE; Tapetoretinal degeneration

Disease Annotations Click to see Annotation Detail View

congenital stationary night blindness autosomal dominant 2 (IAGP)

retinitis pigmentosa (IAGP)

Phenotype Annotations Click to see Annotation Detail View

Human Phenotype

Rod-cone dystrophy (IAGP)

Variant Details

Variant Transcripts

Gene Symbol:	PDE6B
Accession:	XM_047415773
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_000283
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_001379246
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_001145292
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_001145291
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_001379247
Location:	3UTRS;EXON

Gene Symbol:	PDE6B
Accession:	NM_001350154
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	562

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMF QKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMM DRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMG TLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_011513473
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	841

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRL QNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_047415775
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	643

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_047415777
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	643

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	XM_047415774
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	812
TRANSCRIPT MAY BE FAULTY. PLEASE CHECK WITH NCBI FOR CORRECTIONS

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLS AITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKAQKFAMAAQHPSLQP AVSCEHWSHGDLMAPSIFTHDLGSACGYLLQEVRKPKKMTEDHSGYFNFFFFFFLRWSLALSPRLECRGTISAHCNLHL PGSSDSRASASVAGTTGAHHHTWLIFVFSVQMGFHHIGQAGLELLTSGDHPPQLPEVLGLQAATTPSLFLTEANCE TVAYITHPFLDSYHWETFEKGPTLKSLRTFAATHVHMCTQVDRWTQAVSHPVENTHAQEFRIK*TEN

Gene Symbol:	PDE6B
Accession:	XM_047415772
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	922

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSLSEEQARSFLDQNPDFARQYFGKKLSPENVAAACEDGCPPDCDSLRDLCQVEESTALLELVQDMQESINMERVVFKVL RRLCTLLQADRCSLFMYRQRNGVAELATRLFSVQPDSVLEDCLVPPDSEIVFPLDIGVVGHVAQTKKMVNVEDVAECPHF SSFADELTDYKTKNMLATPIMNGKDVVAVIMAVNKLNGPFFTSEDEDVFLKYLNFATLYLKIYHLSYLHNCETRRGQVLL WSANKVFEELTDIERQFHKAFYTVRAYLNCERYSVGLLDMTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYV LHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMNASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVAT FYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADC DEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWR HGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEE TLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSGRGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAP RMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAMFQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDL SAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDR LQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Gene Symbol:	PDE6B
Accession:	NM_001350155
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	456

Amino Acid Sequence (Calculated using NCBI transcript definition)
MPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMNKLENRKDIAQDMVLYHVKCDRDEIQL ILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKCGIQMYYELGVVRKFQIPQEVLVRFLF SISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDIDHRGTNNLYQMKSQNPLAKLHGSSIL ERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKKRAMFQKIVDESKNYQDKKSWVEYLSLETTR KEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPMMDRNKAAELPKLQVGFIDFVCTFVYKE FSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPMGTLWLPQSSPTRIWVLPVAICYKRLGS PRK*

Gene Symbol:	PDE6B
Accession:	XM_047415776
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	643

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTKEKEFFDVWSVLMGESQPYSGPRTPDGREIVFYKVIDYVLHGKEEIKVIPTPSADHWALASGLPSYVAESGFICNIMN ASADEMFKFQEGALDDSGWLIKNVLSMPIVNKKEEIVGVATFYNRKDGKPFDEQDEVLMESLTQFLGWSVMNTDTYDKMN KLENRKDIAQDMVLYHVKCDRDEIQLILPTRARLGKEPADCDEDELGEILKEELPGPTTFDIYEFHFSDLECTELDLVKC GIQMYYELGVVRKFQIPQEVLVRFLFSISKGYRRITYHNWRHGFNVAQTMFTLLMTGKLKSYYTDLEAFAMVTAGLCHDI DHRGTNNLYQMKSQNPLAKLHGSSILERHHLEFGKFLLSEETLNIYQNLNRRQHEHVIHLMDIAIIATDLALYFKCAPSG RGRLAGRAGSLGPPADTGAQRRHSPGDAAPDSVPARRPRAPRMGPRSGSAPPCRRALGAGSPHLLPPAPPLFPGFRKRAM FQKIVDESKNYQDKKSWVEYLSLETTRKEIVMAMMMTACDLSAITKPWEVQSKVALLVAAEFWEQGDLERTVLDQQPIPM MDRNKAAELPKLQVGFIDFVCTFVYKEFSRFHEEILPMFDRLQNNRKEWKALADDRHRNLQWRPSTQVFNLLYPVSTGPM GTLWLPQSSPTRIWVLPVAICYKRLGSPRK*

Variant Samples

ClinVar GRCh37

ClinVar GRCh38

Additional Information

External Database Links

Database	Acc Id	Source(s)
ClinVar	RCV000314158	CLINVAR
	RCV000368804	CLINVAR
dbSNP (RS)	rs371005251	CLINVAR
MedGen	C0035334	CLINVAR
	C1876182	CLINVAR
NCBI Gene	PDE6B	CLINVAR
OMIM	163500	CLINVAR
	180072	CLINVAR
	268000	CLINVAR
SNOMED CT	28835009	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:11589864 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar

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Variant: RGD:11589864 - Homo sapiens

Imported Disease Annotations - ClinVar

Imported Human Phenotype Annotations - ClinVar