• not current

NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=) AND methadone response - Dosage

Clinical significance:drug response

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000211173.1

Allele description

NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=)

Gene:
ABCB1:ATP binding cassette subfamily B member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.12
Genomic location:
Preferred name:
NM_000927.4(ABCB1):c.3435T>C (p.Ile1145=)
HGVS:
  • NC_000007.14:g.87509329A>G
  • NG_011513.1:g.208920T>C
  • NM_000927.4:c.3435T>C
  • NP_000918.2:p.Ile1145=
  • NC_000007.13:g.87138645A>G
Nucleotide change:
3435C-T
Links:
PharmGKB Clinical Annotation: 1183632195; PharmGKB Clinical Annotation: 1296599132; PharmGKB Clinical Annotation: 1444704833; PharmGKB Clinical Annotation: 655386244; PharmGKB Clinical Annotation: 981204372; OMIM: 171050.0002; dbSNP: rs1045642
GMAF:
0.3952(A), 1045642
NCBI 1000 Genomes Browser:
rs1045642
Molecular consequence:
  • NM_000927.4:c.3435T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
methadone response - Dosage
Identifiers:
MedGen: CN236536

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000268139PharmGKBreviewed by expert panel
drug response
Condition: methadone response - Dosage
Drug reported used for: Pain
germlineliterature only

PubMed (8)
[See all records that cite these PMIDs]

Citation Link

Description

Drug is not necessarily used to treat response condition

SCV000268139

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A logistic equation to determine the validity of tramadol from related gene polymorphisms and psychological factors.

Zhao Q, Sun J, Tao Y, Wang S, Jiang C, Zhu Y, Yu F, Zhu J.

Pharmacogenomics. 2014 Mar;15(4):487-95. doi: 10.2217/pgs.14.22.

PubMed [citation]
PMID:
24624916

Association of ABCB1/MDR1 and OPRM1 gene polymorphisms with morphine pain relief.

Campa D, Gioia A, Tomei A, Poli P, Barale R.

Clin Pharmacol Ther. 2008 Apr;83(4):559-66. Epub 2007 Sep 26.

PubMed [citation]
PMID:
17898703
See all PubMed Citations (8)

Details of each submission

From PharmGKB, SCV000268139.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (8)

Description

PharmGKB Level of Evidence 2B: Annotation for a variant-drug combination with moderate evidence of an association. The association must be replicated but there may be some studies that do not show statistical significance, and/or the effect size may be small.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 7, 2017