GLA, 2-BP DEL, NT1176

GLA, 2-BP DEL, NT1176

Variant type:
Deletion
Cytogenetic location:
Xq22
Other names:
  • 2-BP DEL, NT1176
Links:
OMIM: 300644.0044

Clinical significance

GLA, 2-BP DEL, NT1176

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
1
Condition(s)
See supporting ClinVar records

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)
no assertion criteria providedliterature onlygermlineOMIM

(Dec 30, 2010)

SCV000031735
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedFabry's disease (not provided)not providednot providedIn a Dutch patient with severe Fabry disease (301500), deJong et al. (1993) found a 2-bp deletion at nucleotide 1176 of exon 7 of the GLA gene. The de…Full description

Last Updated: Jul 1, 2015