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NM_001003722.1(GLE1):c.433-10A>G

Variation ID: Help
6462
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Feb 1, 2008
Number of submission(s):
2
Condition(s):
See supporting ClinVar records

Allele(s) Help

NM_001003722.1(GLE1):c.433-10A>G

Allele ID:
21501
Variant type:
single nucleotide variant
Cytogenetic location:
9q34
Genomic location:
  • Chr9: 128522658 (on Assembly GRCh38)
  • Chr9: 131284937 (on Assembly GRCh37)
Other names:
  • IVS3AS, A-G, -10
HGVS:
  • NG_012073.1:g.22967A>G
  • NM_001003722.1:c.433-10A>G
  • NM_001499.2:c.433-10A>G
  • NC_000009.12:g.128522658A>G (GRCh38)
  • LRG_484t1:c.433-10A>G
  • LRG_484t2:c.433-10A>G
  • NC_000009.11:g.131284937A>G (GRCh37)
  • LRG_484:g.22967A>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 18204449 Supplementary Fig. 1a to determine the location of this allele on the current reference sequence.
Links:
NCBI 1000 Genomes Browser:
rs386833693
Molecular consequence:
NM_001003722.1:c.433-10A>G: intron variant [Sequence Ontology SO:0001627]

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
Pathogenic
(Feb 1, 2008)
no assertion criteria providedliterature onlygermlineOMIMSCV000027029.3
Pathogenicno assertion criteria providedliterature onlynot providedJuha Muilu Group; Institute for Molecular Medicine Finland (FIMM)SCV000082061.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)not providednot providednot providednot providednot providedConverted during submission to…Full description
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Dec 26, 2017