RGD:13626534 Rat Genome Database

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Variant: RGD:13626534 -  Homo sapiens

RGD ID: 13626534
RS ID: rs771831548
ClinVar ID: CV526037
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 11 119,170,307
GRCh38 11 119,299,597
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_608t1:c.2537C>T
LRG_608:g.98318C>T
NG_016808.1:g.98318C>T
NC_000011.10:g.119299597C>T
More... 		09/19/2017 missense variant uncertain significance Noonan spectrum disorder; rasopathies
Disease Annotations     Click to see Annotation Detail View
RASopathy  (IAGP)


Variant Details
Variant Transcripts
Gene Symbol:CBL
Accession:NM_005188
Location:EXON
Amino Acid Prediction: P to L (nonsynonymous)
Amino Acid Position: 846
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNS
PPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSH
MLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFE
FDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPH
NKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLM
CTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVER
PPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRP
QRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGST
FSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRAC
DCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLAAAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSF
GWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSCQQGSGLAASAATASPQLSSEIENLMSQGYSYQDIQKALVI
AQNNIEMAKNILREFVSISSPAHVAT*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000654974 CLINVAR
dbSNP (RS) rs771831548 CLINVAR
MedGen C5555857 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR