rs774620973 Rat Genome Database

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Variant: rs774620973 -  Homo sapiens

RGD ID: 11594132
RS ID: rs774620973
ClinVar ID: CV287633
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SNRNP200  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 2 96,942,638
GRCh38 2 96,276,900
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NG_016973.1:g.33660C>T
NC_000002.12:g.96276900G>A
NC_000002.11:g.96942638G>A
NM_014014.5:c.6174+4C>T
More... 		07/27/2022 intron variant uncertain significance none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Tapetoretinal degeneration
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV287633Humanretinitis pigmentosa  IAGP 8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVarPMID:17576681 more ...

Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV287633HumanRod-cone dystrophy  IAGP 8554872ClinVar Annotator: match by term: Retinitis pigmentosaClinVarPMID:17576681 more ...
Gene Symbol:SNRNP200
Accession:NM_014014
Location:INTRON

.
PMID:9536098   PMID:17576681   PMID:28492532  



1 to 9 of 9 rows
Database
Acc Id
Source(s)
ClinVar RCV000355841 CLINVAR
  RCV001865225 CLINVAR
dbSNP (RS) rs774620973 CLINVAR
MedGen C0035334 CLINVAR
  C3661900 CLINVAR
NCBI Gene SNRNP200 CLINVAR
OMIM 268000 CLINVAR
  601664 CLINVAR
SNOMED CT 28835009 CLINVAR
1 to 9 of 9 rows