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NM_004117.4(FKBP5):c.-20+13518C>T AND Susceptibility to severe depressive disorder

Germline classification:
Likely risk allele (1 submission)
Last evaluated:
Jul 1, 2022
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003128207.1

Allele description [Variation Report for NM_004117.4(FKBP5):c.-20+13518C>T]

NM_004117.4(FKBP5):c.-20+13518C>T

Gene:
FKBP5:FKBP prolyl isomerase 5 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_004117.4(FKBP5):c.-20+13518C>T
HGVS:
  • NC_000006.12:g.35675286G>A
  • NG_012645.2:g.58298C>T
  • NM_001145775.3:c.-19-32443C>T
  • NM_001145776.2:c.-20+13446C>T
  • NM_001145777.2:c.-20+13518C>T
  • NM_004117.4:c.-20+13518C>TMANE SELECT
  • NC_000006.11:g.35643063G>A
Molecular consequence:
  • NM_001145775.3:c.-19-32443C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145776.2:c.-20+13446C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001145777.2:c.-20+13518C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004117.4:c.-20+13518C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Susceptibility to severe depressive disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002567906Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology
no assertion criteria provided
Likely risk allele
(Jul 1, 2022) 		unknowncase-control

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Han Chineseunknownunknown169not providednot provided282not providedcase-control

Citations

PubMed

FKBP5 polymorphisms and hypothalamic-pituitary-adrenal axis negative feedback in major depression and obsessive-compulsive disorder.

Ferrer A, Costas J, Labad J, Salvat-Pujol N, Segalàs C, Urretavizcaya M, Real E, de Arriba-Arnau A, Alonso P, Crespo JM, Barrachina M, Soriano-Mas C, Carracedo Á, Menchón JM, Soria V.

J Psychiatr Res. 2018 Sep;104:227-234. doi: 10.1016/j.jpsychires.2018.08.003. Epub 2018 Aug 9.

PubMed [citation]
PMID:
30107269

Details of each submission

From Beijing Key Laboratory of Neuropsychopharmacology, State Key Laboratory of Toxicology and Medical Countermeasures, Beijing Institute of Pharmacology and Toxicology, SCV002567906.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Han Chinese169not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown282not providednot provided169not providednot providednot provided

Last Updated: Mar 4, 2023