RGD:8591553 Rat Genome Database

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Variant: RGD:8591553 -  Homo sapiens

RGD ID: 8591553
RS ID: rs587778869
ClinVar ID: CV132328
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127826276  RB1  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 13 48,878,151
GRCh38 13 48,304,015
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
NM_000321.2:c.103C>T
LRG_517t1:c.103C>T
LRG_517:g.5269C>T
NG_009009.1:g.5269C>T
More... 		08/22/2019 nonsense pathogenic antenatal|neonatal/infancy 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_001407166
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPE*DSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSVSS*

Gene Symbol:RB1
Accession:NM_001407167
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPE*DSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLVLRSPVFKPWLTMGN*

Gene Symbol:RB1
Accession:NM_000321
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPE*DSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK*

Gene Symbol:RB1
Accession:NM_001407165
Location:EXON
Amino Acid Prediction: Q to * (nonsynonymous)
Amino Acid Position: 35
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPE*DSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMILHPFSSFYSNTNAKAENE*

Gene Symbol:RB1
Accession:NM_001407168
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:17096365   PMID:24688104   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000114710 CLINVAR
dbSNP (RS) rs587778869 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR