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NM_003181.3(TBXT):c.1034+79C>T

Variation ID: Help
8181
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
risk factor
Last evaluated:
Nov 1, 2004
Number of submission(s):
1
Condition(s):
Neural tube defects, susceptibility to
See supporting ClinVar records

Allele(s) Help

NM_003181.3(TBXT):c.1034+79C>T

Allele ID:
23220
Variant type:
single nucleotide variant
Cytogenetic location:
6q27
Genomic location:
  • Chr6: 166160758 (on Assembly GRCh38)
  • Chr6: 166574246 (on Assembly GRCh37)
Other names:
  • T, IVS7DS, T-C, +79
  • IVS7DS, T-C, +79
HGVS:
  • NG_012135.1:g.12886C>T
  • NM_003181.3:c.1034+79C>T
  • NC_000006.12:g.166160758G>A (GRCh38)
  • NC_000006.11:g.166574246G>A (GRCh37)
Note:
NCBI staff reviewed the location of the primers used to detect this variant (Morrison et al., 1996, PubMed 8733136), to determine that the location is in what is now reported as intron 8.
Links:
NCBI 1000 Genomes Browser:
rs3127334
Molecular consequence:
NM_003181.3:c.1034+79C>T: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.20268 (G)
  • 1000 Genomes Project 0.79732
  • The Genome Aggregation Database (gnomAD) 0.76390
  • Trans-Omics for Precision Medicine (TOPMed) 0.78168

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
risk factor
(Nov 1, 2004)
no assertion criteria providedliterature only
  • Neural tube defects, susceptibility to
germlineOMIMSCV000028869.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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