NLGN4, 2-BP DEL, 1253AG

Variation ID: Help
11051
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic, risk factor
Last evaluated:
Mar 1, 2004
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NLGN4, 2-BP DEL, 1253AG

Allele ID:
26090
Variant type:
Deletion
Cytogenetic location:
Xp22.33
Other names:
  • 2-BP DEL, 1253AG
Links:
OMIM: 300427.0002

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
(Mar 1, 2004)
no assertion criteria providedliterature onlygermlineOMIMSCV000032031.2
risk factor
(Mar 1, 2004)
no assertion criteria providedliterature only
  • Autism, susceptibility to, X-linked 2[MedGen | OMIM]
germlineOMIMSCV000056347.2
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Sep 6, 2017