NM_000046.3:c.384_386delCTC

NM_000046.3:c.384_386delCTC

Variant type:
Deletion
Cytogenetic location:
5q11-q13
HGVS:
  • NM_000046.3:c.384_386delCTC

Clinical significance

NM_000046.3:c.384_386delCTC

Clinical significance:
Pathogenic/Likely pathogenic
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
Pathogenicclassified by single submitter
(research)
researchinheritedUnidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo. Hospital Clínico Universitário de Santiago de Compostela
(Feb 25, 2014)
SCV000119940

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedinheritednot providednot provided

Unidad de Diagnostico y Tratamiento de Errores Congenitos del Metabolismo

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection method
not providednot providednot providedinheritednot providednot providednot providedresearch

Last Updated: Jun 28, 2014

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