RGD:152981600 Rat Genome Database

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Variant: RGD:152981600 -  Homo sapiens

RGD ID: 152981600
RS ID: rs1313333589
ClinVar ID: CV1676916
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,805,128
GRCh38 1 43,339,457
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_005373.3:c.578G>A
NP_005364.1:p.Cys193Tyr
LRG_510:g.6654G>A
NG_007525.1:g.6654G>A
More... 		05/04/2022 missense variant uncertain significance AllHighlyPenetrant; essential thrombocytemia; Essential thrombocythemia; Suspected essential thromboythemia
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPL
Accession:NM_005373
Location:EXON
Amino Acid Prediction: C to Y (nonsynonymous)
Amino Acid Position: 193
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETYCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQP*
Variant Samples
Additional References at PubMed
PMID:17034029   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002247983 CLINVAR
  RCV003101330 CLINVAR
dbSNP (RS) rs1313333589 CLINVAR
MedGen C1327915 CLINVAR
  CN169374 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR