RGD:11601148 Rat Genome Database

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Variant: RGD:11601148 -  Homo sapiens

RGD ID: 11601148
RS ID: rs867287513
ClinVar ID: CV309362
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RP1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 8 55,528,674
GRCh38 8 54,616,114
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.54616114G>A
NC_000008.10:g.55528674G>A
NM_006269.1:c.-101G>A
NG_009840.1:g.5048G>A
More... 		06/14/2016 5 prime utr variant uncertain significance 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_006269
Location:5UTRS;EXON

Gene Symbol:RP1
Accession:NM_001375654
Location:5UTRS;INTRON

Gene Symbol:RP1
Accession:XM_047422074
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422072
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422073
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422070
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422069
Location:INTRON

Gene Symbol:RP1
Accession:XM_017014158
Location:INTRON

Gene Symbol:RP1
Accession:XM_047422071
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000280080 CLINVAR
dbSNP (RS) rs867287513 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene RP1 CLINVAR
OMIM 268000 CLINVAR
  603937 CLINVAR
SNOMED CT 28835009 CLINVAR