NC_000021.8:g.(?_36164422)_(36421595_?)dupRat Genome Database
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Variant : CV653660 (NC_000021.8:g.(?_36164422)_(36421595_?)dup) Homo sapiens

Symbol: CV653660
Name: NC_000021.8:g.(?_36164422)_(36421595_?)dup
RGD ID: 14701774
Condition: Familial platelet disorder with associated myeloid malignancy [RCV000819212]
Clinical Significance: uncertain significance
Last Evaluated: 08/24/2018
Review Status: criteria provided, single submitter
Related Genes: LOC109648314   LOC109648316   RUNX1   RUNX1-IT1  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_36164422)_(36421595_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382134,792,125 - 35,049,298CLINVAR
GRCh372136,164,422 - 36,421,595CLINVAR
Cytogenetic Map2121q22.12CLINVAR
Trait Synonyms: Familial Platelet Disorder with Propensity to Acute Myelogenous Leukemia; Familial thrombocytopenia with propensity to acute myelogenous leukemia; Platelet disorder, Aspirin-like



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000819212 CLINVAR
MedGen C1832388 CLINVAR
NCBI Gene 109648314 CLINVAR
  109648316 CLINVAR
  RUNX1 CLINVAR
  RUNX1-IT1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR