RGD:8563472 Rat Genome Database

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Variant: RGD:8563472 -  Homo sapiens

RGD ID: 8563472
RS ID: rs137853294
ClinVar ID: CV28126
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 49,033,844
GRCh38 13 48,459,708
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.1981C>T
LRG_517:g.160962C>T
NG_009009.1:g.160962C>T
NC_000013.11:g.48459708C>T
More... 		10/31/2018 missense|missense variant pathogenic|likely pathogenic antenatal|neonatal/infancy 1/15 000 Bladder cancer; Cancer predisposition; Eye cancer, retinoblastoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Lung oat cell carcinoma; Malignant tumor of urinary bladder; Neoplastic Syndromes, Hereditary; none provided; Osteosarcoma, somatic; Retinoblastoma; RETINOBLASTOMA, SOMATIC; SMALL CELL CANCER OF THE LUNG, SOMATIC; Small cell lung cancer; Small cell lung carcinoma; Tumor predisposition; Urinary bladder cancer; Urinary Bladder Neoplasms
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:RB1
Accession:NM_000321
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 661
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLWLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK*

Gene Symbol:RB1
Accession:NM_001407165
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 661
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLWLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMILHPFSSFYSNTNAKAENE*

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:1352883   PMID:7881418   PMID:9632788   PMID:9671401   PMID:10486322   PMID:10966849   PMID:12541220   PMID:15643604   PMID:16269091   PMID:16449662   PMID:17096365   PMID:18677112  
PMID:18682685   PMID:20041224   PMID:23532519   PMID:24225018   PMID:24688104   PMID:25741868   PMID:26925970   PMID:28492532   PMID:28575107   PMID:28724667   PMID:28873162  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000013962 CLINVAR
  RCV000492717 CLINVAR
  RCV000510137 CLINVAR
  RCV000763335 CLINVAR
  RCV000790652 CLINVAR
dbSNP (RS) rs137853294 CLINVAR
MedGen C0027672 CLINVAR
  C0035335 CLINVAR
  C0585442 CLINVAR
  C3661900 CLINVAR
  C4288013 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 109800 CLINVAR
  180200 CLINVAR
  182280 CLINVAR
  259500 CLINVAR
  614041 CLINVAR
OMIM Allele 614041.0019 CLINVAR
SNOMED CT 399326009 CLINVAR
  699346009 CLINVAR