RGD:15161519 Rat Genome Database

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Variant: RGD:15161519 -  Homo sapiens

RGD ID: 15161519
RS ID: rs753315546
ClinVar ID: CV743733
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: MPL  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 43,812,459
GRCh38 1 43,346,788
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.1166-4G>A
NG_007525.1:g.13985G>A
NC_000001.11:g.43346788G>A
NC_000001.10:g.43812459G>A
More... 		09/12/2018 intron variant likely benign 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:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001445304 CLINVAR
dbSNP (RS) rs753315546 CLINVAR
MedGen C1327915 CLINVAR
NCBI Gene MPL CLINVAR
OMIM 159530 CLINVAR