RGD:11603194 Rat Genome Database

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Variant: RGD:11603194 -  Homo sapiens

RGD ID: 11603194
RS ID: rs556917167
ClinVar ID: CV309726
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC130003370  OPTN  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 10 13,142,315
GRCh38 10 13,100,315
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_021980.4:c.-12+13A>G
NM_001008211.1:c.-233+13A>G
NG_012876.1:g.5234A>G
NC_000010.11:g.13100315A>G
More... 		01/12/2018 intron variant benign|likely benign AMYOTROPHIC LATERAL SCLEROSIS 12 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
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_021980
Location:5UTRS;INTRON

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000297812 CLINVAR
  RCV000371285 CLINVAR
dbSNP (RS) rs556917167 CLINVAR
MedGen C0339573 CLINVAR
  C3150692 CLINVAR
NCBI Gene LOC130003370 CLINVAR
  OPTN CLINVAR
OMIM 137760 CLINVAR
  602432 CLINVAR
  613435 CLINVAR
SNOMED CT 77075001 CLINVAR