RGD:11646349 Rat Genome Database

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Variant: RGD:11646349 -  Homo sapiens

RGD ID: 11646349
RS ID: rs886046357
ClinVar ID: CV282675
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,819,794
GRCh38 1 43,354,123
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.*1351T>C
LRG_510:g.21320T>C
NG_007525.1:g.21320T>C
NC_000001.11:g.43354123T>C
More... 		06/14/2016 3 prime utr variant uncertain significance neonatal Idiopathic thrombocythemia; THROMBOCYTHEMIA, SOMATIC; THROMBOCYTOSIS 1
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:MPL
Accession:NM_005373
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000270436 CLINVAR
  RCV000362782 CLINVAR
dbSNP (RS) rs886046357 CLINVAR
MedGen C1327915 CLINVAR
  C3277671 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
  187950 CLINVAR