RGD:8564108 Rat Genome Database

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Variant: RGD:8564108 -  Homo sapiens

RGD ID: 8564108
RS ID: rs121913612
ClinVar ID: CV29196
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 43,818,439
GRCh38 1 43,352,768
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_510:g.19965C>T
NG_007525.1:g.19965C>T
NC_000001.11:g.43352768C>T
NC_000001.10:g.43818439C>T
More... 		05/10/2020 missense|missense variant pathogenic|likely pathogenic neonatal/infancy 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: P to L (nonsynonymous)
Amino Acid Position: 635
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPSWALFMVTSCLLLAPQNLAQVSSQDVSLLASDSEPLKCFSRTFEDLTCFWDEEEAAPSGTYQLLYAYPREKPRACPLS
SQSMPHFGTRYVCQFPDQEEVRLFFPLHLWVKNVFLNQTRTQRVLFVDSVGLPAPPSIIKAMGGSQPGELQISWEEPAPE
ISDFLRYELRYGPRDPKNSTGPTVIQLIATETCCPALQRPHSASALDQSPCAQPTMPWQDGPKQTSPSREASALTAEGGS
CLISGLQPGNSYWLQLRSEPDGISLGGSWGSWSLPVTVDLPGDAVALGLQCFTLDLKNVTCQWQQQDHASSQGFFYHSRA
RCCPRDRYPIWENCEEEEKTNPGLQTPQFSRCHFKSRNDSIIHILVEVTTAPGTVHSYLGSPFWIHQAVRLPTPNLHWRE
ISSGHLELEWQHPSSWAAQETCYQLRYTGEGHQDWKVLEPPLGARGGTLELRPRSRYRLQLRARLNGPTYQGPWSSWSDP
TRVETATETAWISLVTALHLVLGLSAVLGLLLLRWQFPAHYRRLRHALWPSLPDLHRVLGQYLRDTAALSPPKATVSDTC
EEVEPSLLEILPKSSERTPLPLCSSQAQMDYRRLQPSCLGTMPLSVCPPMAESGSCCTTHIANHSYLPLSYWQQL*
Variant Samples
Additional References at PubMed
PMID:10971406   PMID:11071383   PMID:18422784   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000015220 CLINVAR
  RCV001378786 CLINVAR
dbSNP (RS) rs121913612 CLINVAR
MedGen C1327915 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
OMIM Allele 159530.0004 CLINVAR