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NM_001145775.2(FKBP5):c.-20+18122T>C

Variation ID: Help
226001
Review status: Help
reviewed by expert panel3 stars out of maximum of 4 stars

Interpretation Help

Allele(s) Help

NM_001145775.2(FKBP5):c.-20+18122T>C

Allele ID:
227758
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
  • Chr6: 35702206 (on Assembly GRCh38)
  • Chr6: 35669983 (on Assembly GRCh37)
HGVS:
  • NG_012645.2:g.31378T>C
  • NM_001145775.2:c.-20+18122T>C
  • NC_000006.12:g.35702206A>G (GRCh38)
  • NC_000006.11:g.35669983A>G (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs4713916
Molecular consequence:
NM_001145775.2:c.-20+18122T>C: intron variant [Sequence Ontology SO:0001627]
Allele frequency:
  • 1000 Genomes Project 0.22205 (A)
  • 1000 Genomes Project 0.77796
  • The Genome Aggregation Database (gnomAD) 0.76925
  • Trans-Omics for Precision Medicine (TOPMed) 0.77171

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
(Oct 14, 2015)
reviewed by expert panel
curationCondition: antidepressants response - Efficacy
  • Drug reported used for: Depression[MedGen]
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depression;Depressive Disorder;Depressive Disorder, Major
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
  • Drug reported used for: Depression;Depressive Disorder
germlinePharmGKBSCV000268343.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: citalopram response - Efficacy
  • Drug reported used for: Depression[MedGen]
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
  • Drug reported used for: Depression;Depressive Disorder
germlinePharmGKBSCV000268344.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: fluoxetine response - Efficacy
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
germlinePharmGKBSCV000268345.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: mirtazapine response - Efficacy
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
germlinePharmGKBSCV000268346.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: paroxetine response - Efficacy
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Panic disorder 1[MedGen | OMIM]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
  • Drug reported used for: Panic Disorder[MedGen]
germlinePharmGKBSCV000268347.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: Selective serotonin reuptake inhibitors response - Efficacy
  • Drug reported used for: Major depressive disorder[MedGen | OMIM]
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depression[MedGen]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
  • Drug reported used for: Depression;Depressive Disorder
germlinePharmGKBSCV000268348.3
drug response
(Oct 14, 2015)
reviewed by expert panel
curationCondition: venlafaxine response - Efficacy
  • Drug reported used for: Depressive Disorder[MedGen]
  • Drug reported used for: Depressive Disorder;Depressive Disorder, Major;Mood Disorders
germlinePharmGKBSCV000268349.3
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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