RGD:13494995 Rat Genome Database

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Variant: RGD:13494995 -  Homo sapiens

RGD ID: 13494995
RS ID: rs1555295597
ClinVar ID: CV463704
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: RB1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 13 49,054,175
GRCh38 13 48,480,039
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.2755A>G
LRG_517:g.181293A>G
NG_009009.1:g.181293A>G
LRG_517t1:c.2755A>G
More... 		03/20/2017 missense variant uncertain significance Cancer predisposition; Eye cancer, retinoblastoma; Hereditary Cancer Syndrome; Hereditary neoplastic syndrome; Neoplastic Syndromes, Hereditary; RETINOBLASTOMA, SOMATIC; Tumor predisposition
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Retinoblastoma  (IAGP)

Variant Details
Variant Transcripts
Gene Symbol:RB1
Accession:NM_001407165
Location:3UTRS;EXON

Gene Symbol:RB1
Accession:NM_000321
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 919
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPPKTPRKTAATAAAAAAEPPAPPPPPPPEEDPEQDSGPEDLPLVRLEFEETEEPDFTALCQKLKIPDHVRERAWLTWEK
VSSVDGVLGGYIQKKKELWGICIFIAAVDLDEMSFTFTELQKNIEISVHKFFNLLKEIDTSTKVDNAMSRLLKKYDVLFA
LFSKLERTCELIYLTQPSSSISTEINSALVLKVSWITFLLAKGEVLQMEDDLVISFQLMLCVLDYFIKLSPPMLLKEPYK
TAVIPINGSPRTPRRGQNRSARIAKQLENDTRIIEVLCKEHECNIDEVKNVYFKNFIPFMNSLGLVTSNGLPEVENLSKR
YEEIYLKNKDLDARLFLDHDKTLQTDSIDSFETQRTPRKSNLDEEVNVIPPHTPVRTVMNTIQQLMMILNSASDQPSENL
ISYFNNCTVNPKESILKRVKDIGYIFKEKFAKAVGQGCVEIGSQRYKLGVRLYYRVMESMLKSEEERLSIQNFSKLLNDN
IFHMSLLACALEVVMATYSRSTSQNLDSGTDLSFPWILNVLNLKAFDFYKVIESFIKAEGNLTREMIKHLERCEHRIMES
LAWLSDSPLFDLIKQSKDREGPTDHLESACPLNLPLQNNHTAADMYLSPVRSPKKKGSTTRVNSTANAETQATSAFQTQK
PLKSTSLSLFYKKVYRLAYLRLNTLCERLLSEHPELEHIIWTLFQHTLQNEYELMRDRHLDQIMMCSMYGICKVKNIDLK
FKIIVTAYKDLPHAVQETFKRVLIKEEEYDSIIVFYNSVFMQRLKTNILQYASTRPPTLSPIPHIPRSPYKFPSSPLRIP
GGNIYISPLKSPYKISEGLPTPTKMTPRSRILVSIGESFGTSEKFQKINQMVCNSDRVLKRSAEGSNPPKPLKKLRFDIE
GSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDGMDTSNKEEK*

Gene Symbol:RB1
Accession:NM_001407168
Location:EXON
Amino Acid Prediction: S to G (nonsynonymous)
Amino Acid Position: 69
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVCNSDRVLKRSAEGSNPPKPLKKLRFDIEGSDEADGSKHLPGESKFQQKLAEMTSTRTRMQKQKMNDGMDTSNKEEK*

Gene Symbol:RB1
Accession:NM_001407167
Location:INTRON

Gene Symbol:RB1
Accession:NM_001407166
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000559312 CLINVAR
  RCV002438314 CLINVAR
dbSNP (RS) rs1555295597 CLINVAR
MedGen C0027672 CLINVAR
  C0035335 CLINVAR
NCBI Gene RB1 CLINVAR
OMIM 180200 CLINVAR
  614041 CLINVAR
SNOMED CT 699346009 CLINVAR