RGD:155941040 Rat Genome Database

RGD:155941040 Rat Genome Database

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Variant: RGD:155941040 - Homo sapiens

RGD ID:

155941040

ClinVar ID:

CV2022284

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OPTN

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	10	13,178,732
GRCh38	10	13,136,732

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001008211.1:c.1613-13T>C NM_001008212.2:c.1613-13T>C NM_001008213.1:c.1613-13T>C NM_021980.4:c.1613-13T>C More...	03/03/2022	intron variant	likely benign	AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, E; OPTN-related open angle glaucoma

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2022284	Human	primary open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:28492532

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2022284	Human	Open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:28492532

Gene Symbol:	OPTN
Accession:	NM_001008213
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_001008211
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_001008212
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_021980
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002730117	CLINVAR
MedGen	C0339573	CLINVAR
NCBI Gene	OPTN	CLINVAR
OMIM	137760	CLINVAR
	602432	CLINVAR
	613435	CLINVAR
SNOMED CT	77075001	CLINVAR