rs201896586 Rat Genome Database

rs201896586 Rat Genome Database

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Variant: rs201896586 - Homo sapiens

RGD ID:

28900136

RS ID:

rs201896586

ClinVar ID:

CV865602

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OPTN

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	10	13,164,417
GRCh38	10	13,122,417

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001008211.1:c.812G>A NM_001008212.2:c.812G>A NM_001008213.1:c.812G>A NM_021980.4:c.812G>A More...	01/13/2018	missense variant	likely benign\|uncertain significance	AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; none provided; OPTN-related open angle glaucoma; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV865602	Human	amyotrophic lateral sclerosis type 12		IAGP		8554872	ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12	ClinVar
CV865602	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar
CV865602	Human	primary open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV865602	Human	Open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar

Gene Symbol:	OPTN
Accession:	NM_001008211
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNHSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII*

Gene Symbol:	OPTN
Accession:	NM_001008212
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNHSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII*

Gene Symbol:	OPTN
Accession:	NM_001008213
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNHSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII*

Gene Symbol:	OPTN
Accession:	NM_021980
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	271

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSQLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNHSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001103687	CLINVAR
	RCV001103688	CLINVAR
	RCV001759871	CLINVAR
	RCV002418581	CLINVAR
dbSNP (RS)	rs201896586	CLINVAR
MedGen	C0339573	CLINVAR
	C0950123	CLINVAR
	C3150692	CLINVAR
	C3661900	CLINVAR
NCBI Gene	OPTN	CLINVAR
OMIM	137760	CLINVAR
	602432	CLINVAR
	613435	CLINVAR
SNOMED CT	77075001	CLINVAR