rs371470839 Rat Genome Database

rs371470839 Rat Genome Database

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Variant: rs371470839 - Homo sapiens

RGD ID:

151879392

RS ID:

rs371470839

ClinVar ID:

CV1395583

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

OPTN

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	10	13,169,907
GRCh38	10	13,127,907

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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.1401+4A>G NM_001008212.2:c.1401+4A>G NM_001008213.1:c.1401+4A>G NM_021980.4:c.1401+4A>G More...	08/01/2024	intron variant	likely benign\|uncertain significance	AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; Amyotrophic lateral sclerosis type 12; Glaucoma 1, open angle, e; OPTN-related condition; OPTN-Related Disorders; OPTN-related open angle glaucoma

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1395583	Human	amyotrophic lateral sclerosis type 12		IAGP		8554872	ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12	ClinVar	PMID:17576681 more ...
CV1395583	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar	PMID:17576681 more ...
CV1395583	Human	Glaucoma 1, Open Angle, E		IAGP		8554872	ClinVar Annotator: match by term: Glaucoma 1 more ...	ClinVar	PMID:17576681 more ...
CV1395583	Human	primary open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:17576681 more ...

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1395583	Human	Open angle glaucoma		IAGP		8554872	ClinVar Annotator: match by term: Primary open angle glaucoma	ClinVar	PMID:17576681 more ...

Gene Symbol:	OPTN
Accession:	NM_001008212
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_021980
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_001008211
Location:	INTRON

Gene Symbol:	OPTN
Accession:	NM_001008213
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:9536098	PMID:17576681	PMID:21613650	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001999337	CLINVAR
	RCV002389016	CLINVAR
	RCV004734390	CLINVAR
dbSNP (RS)	rs371470839	CLINVAR
MedGen	C0339573	CLINVAR
	C0950123	CLINVAR
NCBI Gene	OPTN	CLINVAR
OMIM	137760	CLINVAR
	602432	CLINVAR
	613435	CLINVAR
SNOMED CT	77075001	CLINVAR