RGD:11642318 Rat Genome Database

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Variant: RGD:11642318 -  Homo sapiens

RGD ID: 11642318
RS ID: rs145155035
ClinVar ID: CV264601
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,145,633
GRCh38 11 119,274,923
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.839G>A
LRG_608:g.73644G>A
NG_016808.1:g.73644G>A
NC_000011.10:g.119274923G>A
More... 		01/12/2018 missense variant benign|uncertain significance CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; none provided; Noonan spectrum disorder; Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia; NOONAN SYNDROME-LIKE DISORDER WITHOUT JUVENILE MYELOMONOCYTIC LEUKEMIA; rasopathies
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CBL
Accession:NM_005188
Location:EXON
Amino Acid Prediction: R to Q (nonsynonymous)
Amino Acid Position: 280
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNS
PPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSH
MLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFE
FDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKAQLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPH
NKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLM
CTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVER
PPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRP
QRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGST
FSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRAC
DCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSF
GWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSCQQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVI
AQNNIEMAKNILREFVSISSPAHVAT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000372964 CLINVAR
  RCV001108180 CLINVAR
  RCV001855054 CLINVAR
dbSNP (RS) rs145155035 CLINVAR
MedGen C3150803 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  613563 CLINVAR