RGD:13615643 Rat Genome Database

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Variant: RGD:13615643 -  Homo sapiens

RGD ID: 13615643
RS ID: rs1555282811
ClinVar ID: CV528090
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 48,916,853
GRCh38 13 48,342,717
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000013.11:g.48342717A>T
NC_000013.10:g.48916853A>T
LRG_517t1:c.380+3A>T
LRG_517:g.43971A>T
More... 		01/04/2018 intron variant pathogenic|likely pathogenic 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_001407166
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407168
Location:INTRON

Gene Symbol:RB1
Accession:NM_000321
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407165
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:18181215   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000632932 CLINVAR
dbSNP (RS) rs1555282811 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR