THPO, 516G-T

Variation ID: Help
9510
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 20, 2009
Number of submission(s):
1
Condition(s):
Essential thrombocythemia[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

THPO, 516G-T

Allele ID:
24549
Variant type:
single nucleotide variant
Cytogenetic location:
3q26.3-q27
Other names:
  • 516G-T
Links:
OMIM: 600044.0003

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Aug 20, 2009)
no assertion criteria providedliterature onlygermlineOMIMSCV000030339.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Jun 7, 2016