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NM_152587.3(C11orf65):c.175-5285G>T

Variation ID: Help
225942
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
drug response
Last evaluated:
Nov 17, 2017
Number of submission(s):
1
Condition(s):
metformin response - Efficacy[MedGen]
See supporting ClinVar records

Allele(s) Help

NM_152587.3(C11orf65):c.175-5285G>T

Allele ID:
227817
Variant type:
single nucleotide variant
Cytogenetic location:
11q22.3
Genomic location:
  • Chr11: 108412434 (on Assembly GRCh38)
  • Chr11: 108283161 (on Assembly GRCh37)
HGVS:
  • NM_152587.3:c.175-5285G>T
  • NC_000011.10:g.108412434C>A (GRCh38)
  • NC_000011.9:g.108283161C>A (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs11212617
Molecular consequence:
NM_152587.3:c.175-5285G>T: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.46845 (A)
  • 1000 Genomes Project 0.46845
  • Trans-Omics for Precision Medicine (TOPMed) 0.47092

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
(Nov 17, 2017)
reviewed by expert panel
curationCondition: metformin response - Efficacy
germlinePharmGKBSCV000268157.3
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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