NC_000021.9:g.(?_34787801)_(35048958_?)delRat Genome Database
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Variant : CV403702 (NC_000021.9:g.(?_34787801)_(35048958_?)del) Homo sapiens

Symbol: CV403702
Name: NC_000021.9:g.(?_34787801)_(35048958_?)del
RGD ID: 12891537
Condition: Familial platelet disorder with associated myeloid malignancy [RCV000476777]
Clinical Significance: pathogenic
Last Evaluated: 11/18/2016
Review Status: criteria provided, single submitter
Related Genes: LOC109648314   LOC109648316   RUNX1   RUNX1-IT1  
Variant Type: deletion (SO:0000159)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.8:g.(?_36160098)_(36421255_?)del
NC_000021.9:g.(?_34787801)_(35048958_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382134,787,801 - 35,048,958CLINVAR
GRCh372136,160,098 - 36,421,255CLINVAR
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
Prevalence: <1 / 1 000 000



Disease Annotations     Click to see Annotation Detail View

Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000476777 CLINVAR
MedGen C1832388 CLINVAR
NCBI Gene 109648314 CLINVAR
  109648316 CLINVAR
  RUNX1 CLINVAR
  RUNX1-IT1 CLINVAR
OMIM 151385 CLINVAR
  601399 CLINVAR