RGD:8688089 Rat Genome Database

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Variant: RGD:8688089 -  Homo sapiens

RGD ID: 8688089
RS ID: rs190983971
ClinVar ID: CV138577
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 43,812,255
GRCh38 1 43,346,584
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_005373.2:c.1120A>G
LRG_510t1:c.1120A>G
LRG_510:g.13781A>G
NG_007525.1:g.13781A>G
More... 		03/05/2019 missense variant benign|likely benign|not provided neonatal AllHighlyPenetrant; essential thrombocytemia; Essential thrombocythemia; Idiopathic thrombocythemia; Myelofibrosis, somatic; Primary myelofibrosis; Suspected essential thromboythemia; Suspected idiopathic myelofibrosis; Thrombocythemia 2; THROMBOCYTHEMIA 2, SUSCEPTIBILITY TO; THROMBOCYTHEMIA, SOMATIC; THROMBOCYTOSIS 1; Thrombocytosis, benign familial microcytic
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPL
Accession:NM_005373
Location:EXON
Amino Acid Prediction: T to A (nonsynonymous)
Amino Acid Position: 374
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGAVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP*
Variant Samples
Additional References at PubMed
PMID:24728327   PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000121553 CLINVAR
  RCV000273701 CLINVAR
  RCV000369869 CLINVAR
  RCV000472784 CLINVAR
  RCV002492432 CLINVAR
dbSNP (RS) rs190983971 CLINVAR
MedGen C1327915 CLINVAR
  C3277671 CLINVAR
  CN169374 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
  187950 CLINVAR
  254450 CLINVAR
  601977 CLINVAR