RGD:11666956 Rat Genome Database

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Variant: RGD:11666956 -  Homo sapiens

RGD ID: 11666956
RS ID: rs571383547
ClinVar ID: CV334934
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 13 49,055,475
GRCh38 13 48,481,339
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
LRG_517t1:c.*1268G>A
LRG_517:g.182593G>A
NG_009009.1:g.182593G>A
NC_000013.11:g.48481339G>A
More... 		01/13/2018 3 prime utr variant benign|likely benign antenatal 1/15 000 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_001407168
Location:3UTRS;EXON

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

Gene Symbol:RB1
Accession:NM_000321
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 RCV000399782 CLINVAR
dbSNP (RS) rs571383547 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR