RGD:11665401 Rat Genome Database

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Variant: RGD:11665401 -  Homo sapiens

RGD ID: 11665401
RS ID: rs12415716
ClinVar ID: CV353124
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPTN  
Reference Nucleotide: T
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,180,287
GRCh38 10 13,138,287
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012876.1:g.43206T>G
NC_000010.11:g.13138287T>G
NC_000010.10:g.13180287T>G
NM_001008212.2:c.*1421T>G
 05/14/2021 3 prime utr variant|500b downstream variant benign none provided
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:OPTN
Accession:NM_001008212
Location:3UTRS;EXON

Gene Symbol:OPTN
Accession:NM_001008211
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008213
Location:INTRON

Gene Symbol:OPTN
Accession:NM_021980
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000269349 CLINVAR
  RCV000363969 CLINVAR
  RCV001683461 CLINVAR
dbSNP (RS) rs12415716 CLINVAR
MedGen C0339573 CLINVAR
  C3661900 CLINVAR
  CN239196 CLINVAR
NCBI Gene OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
SNOMED CT 77075001 CLINVAR