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THPO, 1-BP DEL, 3252G

Variation ID: Help
9509
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Aug 15, 1998
Number of submission(s):
1
Condition(s):
Essential thrombocythemia[MeSH - MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

THPO, 1-BP DEL, 3252G

Allele ID:
24548
Variant type:
Deletion
Cytogenetic location:
3q26.3-q27
Other names:
  • 1-BP DEL, 3252G
Links:
OMIM: 600044.0002

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 15, 1998)
no assertion criteria providedliterature onlygermlineOMIMSCV000030338.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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