RGD:13820356 Rat Genome Database

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Variant: RGD:13820356 -  Homo sapiens

RGD ID: 13820356
RS ID: rs1566235448
ClinVar ID: CV575928
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 13 49,033,890
GRCh38 13 48,459,754
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_000321.3:c.2027T>C
LRG_517:g.161008T>C
NG_009009.1:g.161008T>C
NC_000013.11:g.48459754T>C
More... 		07/25/2019 missense variant uncertain significance 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_001407165
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 676
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPESEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMILHPFSSFYSNTNAKAENE*

Gene Symbol:RB1
Accession:NM_000321
Location:EXON
Amino Acid Prediction: L to S (nonsynonymous)
Amino Acid Position: 676
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPESEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDSMDTSNKEEK*

Gene Symbol:RB1
Accession:NM_001407166
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407168
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407167
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000709348 CLINVAR
dbSNP (RS) rs1566235448 CLINVAR
MedGen C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR