rs753985092 Rat Genome Database

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Variant: rs753985092 -  Homo sapiens

RGD ID: 127303306
RS ID: rs753985092
ClinVar ID: CV1154248
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNRNP200  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 2 96,963,366
GRCh38 2 96,297,628
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_014014.5:c.1203+9C>T
NG_016973.1:g.12932C>T
NC_000002.12:g.96297628G>A
NC_000002.11:g.96963366G>A
More... 		09/17/2024 intron variant benign|likely benign AllHighlyPenetrant; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; SNRNP200-related condition
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV1154248Humanretinitis pigmentosa 33  IAGP 8554872ClinVar Annotator: match by term: SNRNP200-related conditionClinVarPMID:28492532
Gene Symbol:SNRNP200
Accession:NM_014014
Location:INTRON

.
PMID:28492532  



Database
Acc Id
Source(s)
ClinVar RCV001515427 CLINVAR
  RCV001701182 CLINVAR
  RCV004757463 CLINVAR
dbSNP (RS) rs753985092 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene SNRNP200 CLINVAR
OMIM 601664 CLINVAR