RGD:156106926 Rat Genome Database

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Variant: RGD:156106926 -  Homo sapiens

RGD ID: 156106926
ClinVar ID: CV2303846
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OPTN  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 10 13,169,908
GRCh38 10 13,127,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NC_000010.11:g.13127908G>A
NC_000010.10:g.13169908G>A
NM_001008211.1:c.1401+5G>A
NM_001008212.2:c.1401+5G>A
More... 		10/27/2022 intron variant uncertain significance
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV2303846Humangenetic disease  IAGP 8554872ClinVar Annotator: match by term: Inborn genetic diseasesClinVar 
Gene Symbol:OPTN
Accession:NM_001008211
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008213
Location:INTRON

Gene Symbol:OPTN
Accession:NM_001008212
Location:INTRON

Gene Symbol:OPTN
Accession:NM_021980
Location:INTRON

.


Database
Acc Id
Source(s)
ClinVar RCV002888970 CLINVAR
MedGen C0950123 CLINVAR
NCBI Gene OPTN CLINVAR
OMIM 602432 CLINVAR