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NR_103444.1(LOC100996325):n.366+1469G>A

Variation ID: Help
548117
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
Feb 23, 2017
Number of submission(s):
1
Condition(s):
vincristine response - Toxicity/ADR
See supporting ClinVar records

Allele(s) Help

NR_103444.1(LOC100996325):n.366+1469G>A

Allele ID:
538600
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
  • Chr5: 609978 (on Assembly GRCh38)
  • Chr5: 610093 (on Assembly GRCh37)
HGVS:
  • NC_000005.10:g.609978C>T (GRCh38)
  • NR_103444.1:n.366+1469G>A
  • NC_000005.9:g.610093C>T (GRCh37)
Links:
dbSNP: rs924607
NCBI 1000 Genomes Browser:
rs924607
Allele frequency:
  • 1000 Genomes Project 0.28215 (T)
  • 1000 Genomes Project 0.28215
  • The Genome Aggregation Database (gnomAD) 0.34260
  • Trans-Omics for Precision Medicine (TOPMed) 0.30642

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

PGx

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
drug response
(Feb 23, 2017)
reviewed by expert panel
curationCondition: vincristine response - Toxicity/ADR
  • Drug reported used for: Precursor Cell Lymphoblastic Leukemia-Lymphoma[MedGen]
germlinePharmGKBSCV000783099.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
PharmGKBnot providednot providedgermlinenot providednot providedPharmGKB Level of Evidence 2B:…Full description
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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