RGD:14726170 Rat Genome Database

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Variant: RGD:14726170 -  Homo sapiens

RGD ID: 14726170
RS ID: rs1593532101
ClinVar ID: CV652402
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: -
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 49,030,485
GRCh38 13 48,456,349
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_517t1:c.1960_1960+1insC
LRG_517:g.157603_157604insC
NG_009009.1:g.157603_157604insC
NC_000013.11:g.48456349_48456350insC
More...
11/01/2018 splice donor variant 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_000321
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407165
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407166
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407167
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407168
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:16199547   PMID:17096365   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000799100 CLINVAR
dbSNP (RS) rs1593532101 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR