RGD:156136341 Rat Genome Database

RGD:156136341 Rat Genome Database

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Variant: RGD:156136341 - Homo sapiens

RGD ID:

156136341

ClinVar ID:

CV2085867

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OPTN

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	10	13,160,964
GRCh38	10	13,118,964

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View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001008211.1:c.703C>T NM_001008212.2:c.703C>T NM_001008213.1:c.703C>T NM_021980.4:c.703C>T More...	02/19/2024	nonsense	pathogenic\|likely pathogenic\|uncertain significance	AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E; none provided; OPTN-related condition; OPTN-Related Disorders; OPTN-related open angle glaucoma; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2085867	Human	amyotrophic lateral sclerosis type 12		IAGP		8554872	ClinVar Annotator: match by term: AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA	ClinVar	PMID:20428114 more ...
CV2085867	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:20428114 more ...
CV2085867	Human	Glaucoma 1, Open Angle, E		IAGP		8554872	ClinVar Annotator: match by term: Glaucoma 1 more ...	ClinVar	PMID:20428114 more ...
CV2085867	Human	primary open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:20428114 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2085867	Human	Open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:20428114 more ...

Gene Symbol:	OPTN
Accession:	NM_001008213
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	235

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII

Gene Symbol:	OPTN
Accession:	NM_021980
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	235

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII

Gene Symbol:	OPTN
Accession:	NM_001008211
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	235

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII

Gene Symbol:	OPTN
Accession:	NM_001008212
Location:	EXON
Amino Acid Prediction:	Q to * (nonsynonymous)
Amino Acid Position:	235

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSHQPLSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKELLTENHQLKEAMKLNNQAMKGRFEELSAWTEKQK EERQFFEIQSKEAKERLMALSHENEKLKEELGKLKGKSERSSEDPTDDSRLPRAEAEQEKDQLRTQVVRLQAEKADLLGI VSELQLKLNSSGSSEDSFVEIRMAEGEAEGSVKEIKHSPGPTRTVSTGTALSKYRSRSADGAKNYFEHEELTVSLLLCL REGNQKVERLEVALKEAKERVSDFEKKTSNRSEIETQTEGSTEKENDEEKGPETVGSEVEALNLQVTSLFKELQEAHTKL SEAELMKKRLQEKCQALERKNSAIPSELNEKQELVYTNKKLELQVESMLSEIKMEQAKTEDEKSKLTVLQMTHNKLLQEH NNALKTIEELTRKESEKVDRAVLKELSEKLELAEKALASKQLQMDEMKQTIAKQEEDLETMTILRAQMEVYCSDFHAERA AREKIHEEKEQLALQLAVLLKENDAFEDGGRQSLMEMQSRHGARTSDSDQQAYLVQRGAEDRDWRQQRNIPIHSCPKCGE VLPDIDTLQIHVMDCII

ClinVar GRCh37	ClinVar GRCh38

PMID:20428114	PMID:25382069	PMID:25943890	PMID:28492532	PMID:30739198

Database	Acc Id	Source(s)
ClinVar	RCV002871820	CLINVAR
	RCV002898610	CLINVAR
	RCV004719275	CLINVAR
	RCV004736215	CLINVAR
MedGen	C0339573	CLINVAR
	C0950123	CLINVAR
	C3661900	CLINVAR
NCBI Gene	OPTN	CLINVAR
OMIM	137760	CLINVAR
	602432	CLINVAR
	613435	CLINVAR
SNOMED CT	77075001	CLINVAR