RGD:8570854 Rat Genome Database

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Variant: RGD:8570854 -  Homo sapiens

RGD ID: 8570854
RS ID: rs146517083
ClinVar ID: CV48889
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CBL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 119,169,085
GRCh38 11 119,298,375
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_016808.1:g.97096G>A
NC_000011.10:g.119298375G>A
NC_000011.9:g.119169085G>A
NM_005188.2:c.2269G>A
More... 		03/23/2020 missense|missense variant benign|likely benign|conflicting interpretations of pathogenicity|not provided AllHighlyPenetrant; CBL MUTATION-ASSOCIATED SYNDROME; CBL SYNDROME; LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC; 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

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CBL
Accession:NM_005188
Location:EXON
Amino Acid Prediction: A to T (nonsynonymous)
Amino Acid Position: 757
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MAGNVKKSSGAGGGSGSGGSGSGGLIGLMKDAFQPHHHHHHHLSPHPPGTVDKKMVEKCWKLMDKVVRLCQNPKLALKNS
PPYILDLLPDTYQHLRTILSRYEGKMETLGENEYFRVFMENLMKKTKQTISLFKEGKERMYEENSQPRRNLTKLSLIFSH
MLAELKGIFPSGLFQGDTFRITKADAAEFWRKAFGEKTIVPWKSFRQALHEVHPISSGLEAMALKSTIDLTCNDYISVFE
FDIFTRLFQPWSSLLRNWNSLAVTHPGYMAFLTYDEVKARLQKFIHKPGSYIFRLSCTRLGQWAIGYVTADGNILQTIPH
NKPLFQALIDGFREGFYLFPDGRNQNPDLTGLCEPTPQDHIKVTQEQYELYCEMGSTFQLCKICAENDKDVKIEPCGHLM
CTSCLTSWQESEGQGCPFCRCEIKGTEPIVVDPFDPRGSGSLLRQGAEGAPSPNYDDDDDERADDTLFMMKELAGAKVER
PPSPFSMAPQASLPPVPPRLDLLPQRVCVPSSASALGTASKAASGSLHKDKPLPVPPTLRDLPPPPPPDRPYSVGAESRP
QRRPLPCTPGDCPSRDKLPPVPSSRLGDSWLPRPIPKVPVSAPSSSDPWTGRELTNRHSLPFSLPSQMEPRPDVPRLGST
FSLDTSMSMNSSPLVGPECDHPKIKPSSSANAIYSLAARPLPVPKLPPGEQCEGEEDTEYMTPSSRPLRPLDTSQSSRAC
DCDQQIDSCTYEAMYNIQSQAPSITESSTFGEGNLATAHANTGPEESENEDDGYDVPKPPVPAVLARRTLSDISNASSSF
GWLSLDGDPTTNVTEGSQVPERPPKPFPRRINSERKAGSCQQGSGPAASAATASPQLSSEIENLMSQGYSYQDIQKALVI
AQNNIEMAKNILREFVSISSPAHVAT*
Variant Samples
Additional References at PubMed
PMID:19387008   PMID:19620960   PMID:19901108   PMID:20951944   PMID:21828135   PMID:22733026   PMID:23690417   PMID:24033266   PMID:24728327   PMID:25224413   PMID:25741868   PMID:27069254  
PMID:28492532   PMID:29296819  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000120463 CLINVAR
  RCV000514779 CLINVAR
  RCV001001629 CLINVAR
  RCV001080932 CLINVAR
  RCV001813229 CLINVAR
  RCV003315531 CLINVAR
dbSNP (RS) rs146517083 CLINVAR
MedGen C0349639 CLINVAR
  C3150803 CLINVAR
  C3661900 CLINVAR
  C5555857 CLINVAR
  C5681679 CLINVAR
  CN169374 CLINVAR
NCBI Gene CBL CLINVAR
OMIM 165360 CLINVAR
  607785 CLINVAR
  613563 CLINVAR