GDF5, 22-BP DUP

Variation ID: Help
8377
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Mar 1, 1996
Number of submission(s):
1
Condition(s):
Acromesomelic dysplasia Hunter Thompson type[MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

GDF5, 22-BP DUP

Allele ID:
23416
Variant type:
Duplication
Cytogenetic location:
20q11.2
Other names:
  • 22-BP DUP
Links:
OMIM: 601146.0001

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
(Mar 1, 1996)
no assertion criteria providedliterature only
  • Acromesomelic dysplasia Hunter Thompson type[MedGen | OMIM]
germlineOMIMSCV000029093.3
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Apr 7, 2017