GLA, 1-BP INS, NT1040

GLA, 1-BP INS, NT1040

Variant type:
Insertion
Cytogenetic location:
Xq22
Other names:
  • 1-BP INS, NT1040
Links:
OMIM: 300644.0042

Clinical significance

GLA, 1-BP INS, NT1040

Clinical significance:
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

Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Dec 8, 2010)
classified by single submitter
(literature only)
literature onlygermlineOMIM

(Dec 30, 2010)

SCV000031733

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In a Dutch patient with severe Fabry disease (301500), deJong et al. (1993) found a 1-bp insertion at nucleotide 1040 of exon 7 of the GLA gene.

Last Updated: May 21, 2015