RGD:11590876 Rat Genome Database

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Variant: RGD:11590876 -  Homo sapiens

RGD ID: 11590876
RS ID: rs149940158
ClinVar ID: CV281136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 43,819,929
GRCh38 1 43,354,258
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.*1486T>C
LRG_510:g.21455T>C
NG_007525.1:g.21455T>C
NC_000001.11:g.43354258T>C
More... 		06/14/2016 3 prime utr variant likely benign 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 RCV000323198 CLINVAR
  RCV000380310 CLINVAR
dbSNP (RS) rs149940158 CLINVAR
MedGen C1327915 CLINVAR
  C3277671 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR
  187950 CLINVAR