RGD:11646317 Rat Genome Database

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Variant: RGD:11646317 -  Homo sapiens

RGD ID: 11646317
RS ID: rs886046351
ClinVar ID: CV282382
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LOC127268934  MPL  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,814,536
GRCh38 1 43,348,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_510t1:c.1331C>A
LRG_510:g.16062C>A
NG_007525.1:g.16062C>A
NC_000001.11:g.43348865C>A
More... 		06/14/2016 missense variant uncertain significance neonatal essential thrombocytemia; Essential thrombocythemia; Idiopathic thrombocythemia; 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: A to D (nonsynonymous)
Amino Acid Position: 444
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGDRGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP*
Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000270262 CLINVAR
  RCV000325351 CLINVAR
  RCV002520490 CLINVAR
dbSNP (RS) rs886046351 CLINVAR
MedGen C1327915 CLINVAR
  C3277671 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
  187950 CLINVAR