rs955585590 Rat Genome Database

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Variant: rs955585590 -  Homo sapiens

RGD ID: 28906318
RS ID: rs955585590
ClinVar ID: CV865596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130003370  OPTN  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,142,282
GRCh38 10 13,100,282
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001008212.2:c.-184C>G
NM_001008213.1:c.-238C>G
NM_001008211.1:c.-253C>G
NM_021980.4:c.-32C>G
More... 		01/13/2018 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)
CV865596Humanamyotrophic lateral sclerosis type 12  IAGP 8554872ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 12ClinVar 
CV865596Humanprimary 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)
CV865596HumanOpen angle glaucoma  IAGP 8554872ClinVar Annotator: match by term: Primary open angle glaucomaClinVar 
Gene Symbol:OPTN
Accession:NM_021980
Location:5UTRS;EXON

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

Gene Symbol:OPTN
Accession:NM_001008211
Location:5UTRS;EXON

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

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1 to 11 of 11 rows
Database
Acc Id
Source(s)
ClinVar RCV001106575 CLINVAR
  RCV001106576 CLINVAR
dbSNP (RS) rs955585590 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