rs1453573477 Rat Genome Database

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Variant: rs1453573477 -  Homo sapiens

RGD ID: 28906320
RS ID: rs1453573477
ClinVar ID: CV865597
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130003370  OPTN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 13,142,294
GRCh38 10 13,100,294
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000010.10:g.13142294G>A
NM_001008212.2:c.-172G>A
NM_021980.4:c.-20G>A
NM_001008213.1:c.-226G>A
More... 		04/27/2017 5 prime utr variant uncertain significance AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; OPTN-related open angle glaucoma
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV865597Humanamyotrophic lateral sclerosis type 12  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVar 
CV865597Humanprimary open angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVar 

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV865597HumanOpen angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVar 
Gene Symbol:OPTN
Accession:NM_001008211
Location:5UTRS;EXON

Gene Symbol:OPTN
Accession:NM_001008212
Location:5UTRS;EXON

Gene Symbol:OPTN
Accession:NM_001008213
Location:5UTRS;EXON

Gene Symbol:OPTN
Accession:NM_021980
Location:5UTRS;EXON

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1 to 11 of 11 rows
Database
Acc Id
Source(s)
ClinVar RCV001106577 CLINVAR
  RCV001106578 CLINVAR
dbSNP (RS) rs1453573477 CLINVAR
MedGen C0339573 CLINVAR
  C3150692 CLINVAR
NCBI Gene LOC130003370 CLINVAR
  OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
  613435 CLINVAR
SNOMED CT 77075001 CLINVAR
1 to 11 of 11 rows