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NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg)

Variation ID: Help
225976
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_006297.2(XRCC1):c.1196A>G (p.Gln399Arg)

Allele ID:
227806
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.31
Genomic location:
  • Chr19: 43551574 (on Assembly GRCh38)
  • Chr19: 44055726 (on Assembly GRCh37)
Protein change:
Q399R
HGVS:
  • NG_033799.1:g.29005A>G
  • NM_006297.2:c.1196A>G
  • NP_006288.2:p.Gln399Arg
  • NC_000019.10:g.43551574T>C (GRCh38)
  • LRG_784t1:c.1196A>G
  • NC_000019.9:g.44055726T>C (GRCh37)
  • LRG_784p1:p.Gln399Arg
  • LRG_784:g.29005A>G
Links:
NCBI 1000 Genomes Browser:
rs25487
Molecular consequence:
NM_006297.2:c.1196A>G: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
  • 1000 Genomes Project 0.26038 (T)
  • 1000 Genomes Project 0.73962
  • Exome Aggregation Consortium (ExAC) 0.68340
  • NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.70921
  • The Genome Aggregation Database (gnomAD) 0.71996
  • The Genome Aggregation Database (gnomAD), exomes 0.68100
  • Trans-Omics for Precision Medicine (TOPMed) 0.71548

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
(Dec 7, 2017)
reviewed by expert panel
curationCondition: carboplatin response - Efficacy
  • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
germlinePharmGKBSCV000783035.1
drug response
(Dec 7, 2017)
reviewed by expert panel
curationCondition: cisplatin response - Efficacy
  • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
germlinePharmGKBSCV000783036.1
drug response
(Dec 7, 2017)
reviewed by expert panel
curationCondition: oxaliplatin response - Efficacy
  • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
germlinePharmGKBSCV000783037.1
drug response
(Dec 7, 2017)
reviewed by expert panel
curationCondition: platinum response - Efficacy
  • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
germlinePharmGKBSCV000783038.1
drug response
(Dec 7, 2017)
reviewed by expert panel
curationCondition: Platinum compounds response - Efficacy
  • Drug reported used for: Carcinoma, Non-Small-Cell Lung[MedGen]
germlinePharmGKBSCV000783039.1
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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