RGD:10048525 Rat Genome Database

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Variant: RGD:10048525 -  Homo sapiens

RGD ID: 10048525
RS ID: rs186571865
ClinVar ID: CV193596
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RP1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 55,534,671
GRCh38 8 54,622,111
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.54622111T>C
NC_000008.10:g.55534671T>C
NM_006269.2:c.616-6T>C
NG_009840.2:g.11045T>C
More... 		03/01/2019 intron variant likely pathogenic|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance AllHighlyPenetrant; none provided; Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RP1
Accession:NM_001375654
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422070
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422073
Location:INTRON

Gene Symbol:RP1
Accession:NM_006269
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422071
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422074
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422069
Location:INTRON

Gene Symbol:RP1
Accession:XM_017014158
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422072
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28041643   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000177256 CLINVAR
  RCV000487641 CLINVAR
  RCV000505116 CLINVAR
  RCV002500496 CLINVAR
dbSNP (RS) rs186571865 CLINVAR
MedGen C0035334 CLINVAR
  C0220701 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene RP1 CLINVAR
OMIM 180100 CLINVAR
  268000 CLINVAR
  603937 CLINVAR
SNOMED CT 28835009 CLINVAR