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NM_000033.3(ABCD1):c.1489-24C>G

Variation ID: Help
496873
Review status: Help
criteria provided, single submitter1 star out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_000033.3(ABCD1):c.1489-24C>G

Allele ID:
488297
Variant type:
single nucleotide variant
Cytogenetic location:
Xq28
Genomic location:
  • ChrX: 153740068 (on Assembly GRCh38)
  • ChrX: 153005522 (on Assembly GRCh37)
HGVS:
  • NG_009022.2:g.20201C>G
  • NM_000033.3:c.1489-24C>G
  • NC_000023.11:g.153740068C>G (GRCh38)
  • NC_000023.10:g.153005522C>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs149185761
Molecular consequence:
NM_000033.3:c.1489-24C>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
Benign
(Feb 1, 2017)
criteria provided, single submitter
clinical testinggermlineEGL Genetic Diagnostics,Eurofins Clinical DiagnosticsSCV000700468.1
Benign
(Aug 16, 2017)
no assertion criteria providedclinical testingunknown
    Mayo Clinic Genetic Testing Laboratories,Mayo ClinicSCV000800833.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Total for all submittersnot provided1germline, unknownnot providednot provided
    EGL Genetic Diagnostics,Eurofins Clinical Diagnosticsnot provided1germlinenot providednot providednot provided
    Mayo Clinic Genetic Testing Laboratories,Mayo Clinicnot providednot providedunknownnot providednot providednot providednot provided
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 8, 2018