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NM_001003722.1(GLE1):c.*933A>C

Variation ID: Help
365146
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Clinical significance:
Uncertain significance
Last evaluated:
Jun 14, 2016
Number of submission(s):
2
Condition(s):
  • Lethal arthrogryposis with anterior horn cell disease [MedGen - Orphanet - OMIM]
  • Lethal Congenital Contracture Syndrome [MedGen]
See supporting ClinVar records

Allele(s) Help

NM_001003722.1(GLE1):c.*933A>C

Allele ID:
306929
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
  • Chr9: 128542103 (on Assembly GRCh38)
  • Chr9: 131304382 (on Assembly GRCh37)
HGVS:
  • NG_012073.1:g.42412A>C
  • NM_001003722.1:c.*933A>C
  • NC_000009.12:g.128542103A>C (GRCh38)
  • LRG_484t1:c.*933A>C
  • NC_000009.11:g.131304382A>C (GRCh37)
  • LRG_484:g.42412A>C
Links:
NCBI 1000 Genomes Browser:
rs537244282
Molecular consequence:
NM_001003722.1:c.*933A>C: 3 prime UTR variant [Sequence Ontology SO:0001624]
Allele frequency:
  • The Genome Aggregation Database (gnomAD) 0.00003
  • Trans-Omics for Precision Medicine (TOPMed) 0.00010

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
Uncertain significance
(Jun 14, 2016)
criteria provided, single submitter
clinical testing
  • Lethal Congenital Contracture Syndrome[MedGen]
germline
    Illumina Clinical Services Laboratory,IlluminaSCV000477465.2
    Uncertain significance
    (Jun 14, 2016)
    criteria provided, single submitter
    clinical testinggermline
      Illumina Clinical Services Laboratory,IlluminaSCV000477466.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Illumina Clinical Services Laboratory,Illuminanot providednot providedgermlinenot providednot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: May 21, 2019

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