rs191671333 Rat Genome Database

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Variant: rs191671333 -  Homo sapiens

RGD ID: 11608811
RS ID: rs191671333
ClinVar ID: CV321224
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPTN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 13,175,591
GRCh38 10 13,133,591
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001008211.1:c.1612+10G>A
NM_021980.4:c.1612+10G>A
NG_012876.1:g.38510G>A
NC_000010.11:g.13133591G>A
More... 		02/09/2019 intron variant benign|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)
CV321224Humanamyotrophic lateral sclerosis type 12  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVarPMID:28492532
CV321224Humanprimary open angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV321224HumanOpen angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVarPMID:28492532
Gene Symbol:OPTN
Accession:NM_001008211
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008213
Location:INTRON

Gene Symbol:OPTN
Accession:NM_021980
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008212
Location:INTRON

.
PMID:28492532  



1 to 11 of 11 rows
Database
Acc Id
Source(s)
ClinVar RCV000360068 CLINVAR
  RCV000391663 CLINVAR
  RCV000874069 CLINVAR
dbSNP (RS) rs191671333 CLINVAR
MedGen C0339573 CLINVAR
  C3150692 CLINVAR
NCBI Gene OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
  613435 CLINVAR
SNOMED CT 77075001 CLINVAR
1 to 11 of 11 rows