RGD:11582097 Rat Genome Database

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Variant: RGD:11582097 -  Homo sapiens

RGD ID: 11582097
RS ID: rs148784027
ClinVar ID: CV282387
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,817,930
GRCh38 1 43,352,259
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.1609C>T
LRG_510t1:c.1609C>T
LRG_510:g.19456C>T
NG_007525.1:g.19456C>T
More... 		08/01/2022 missense variant likely pathogenic|likely benign|uncertain significance neonatal AllHighlyPenetrant; essential thrombocytemia; Essential thrombocythemia; Idiopathic thrombocythemia; none provided; Suspected essential thromboythemia; THROMBOCYTHEMIA, SOMATIC; THROMBOCYTOSIS 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPL
Accession:NM_005373
Location:EXON
Amino Acid Prediction: R to W (nonsynonymous)
Amino Acid Position: 537
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHWVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP*
Variant Samples
Additional References at PubMed
PMID:17054430   PMID:24438083   PMID:28492532   PMID:28697167   PMID:35776903  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000352022 CLINVAR
  RCV000397980 CLINVAR
  RCV001245598 CLINVAR
  RCV003114469 CLINVAR
  RCV003409454 CLINVAR
dbSNP (RS) rs148784027 CLINVAR
MedGen C1327915 CLINVAR
  C3277671 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
  187950 CLINVAR