NM_000732.4(CD3D):c.406+18G>A

NM_000732.4(CD3D):c.406+18G>A

Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
  • Chr11:118339757 (on Assembly GRCh38)
  • Chr11:118210472 (on Assembly GRCh37)
HGVS:
  • NG_009891.1:g.7988G>A
  • NM_000732.4:c.406+18G>A
  • NC_000011.10:g.118339757C>T (GRCh38)
  • LRG_37t1:c.406+18G>A
  • NC_000011.9:g.118210472C>T (GRCh37)
  • LRG_37:g.7988G>A
Links:
dbSNP: 28606580
NCBI 1000 Genomes Browser:
rs28606580
Molecular consequence:
NM_000732.4:c.406+18G>A: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
GMAF 0.01340 (T)

Clinical significance

NM_000732.4(CD3D):c.406+18G>A

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

1 Affected gene

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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
Benign
(Jan 14, 2013)
classified by single submitter
(clinical testing)
clinical testinggermlineGeneDx,GeneDx

(Jun 10, 2014)

SCV000167585

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

GeneDx

Observations

FamiliesIndividualsSegregationAllele originObserved phenotypesEthnicityGeographic originCollection methodDescription
not providednot providednot providedgermlinenot providednot providednot providedclinical testingSee description

Last Updated: May 23, 2015