RGD:28868678 Rat Genome Database

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Variant: RGD:28868678 -  Homo sapiens

RGD ID: 28868678
RS ID: rs1043605723
ClinVar ID: CV871393
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 49,055,251
GRCh38 13 48,481,115
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.10:g.49055251T>A
LRG_517:g.182369T>A
NM_000321.3:c.*1044T>A
NG_009009.1:g.182369T>A
More... 		01/12/2018 3 prime utr variant uncertain significance Eye cancer, retinoblastoma; RETINOBLASTOMA, SOMATIC
Disease Annotations     Click to see Annotation Detail View
retinoblastoma  (IAGP)

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Retinoblastoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RB1
Accession:NM_000321
Location:3UTRS;EXON

Gene Symbol:RB1
Accession:NM_001407168
Location:3UTRS;EXON

Gene Symbol:RB1
Accession:NM_001407165
Location:3UTRS;EXON

Gene Symbol:RB1
Accession:NM_001407166
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407167
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001112653 CLINVAR
dbSNP (RS) rs1043605723 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR