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NM_000106.6(CYP2D6):c.941T>C (p.Leu314Pro) AND Tramadol response

Germline classification:
drug response (1 submission)
Last evaluated:
Apr 28, 2018
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:
RCV001029623.2

Allele description [Variation Report for NM_000106.6(CYP2D6):c.941T>C (p.Leu314Pro)]

NM_000106.6(CYP2D6):c.941T>C (p.Leu314Pro)

Gene:
CYP2D6:cytochrome P450 family 2 subfamily D member 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q13.2
Genomic location:
Preferred name:
NM_000106.6(CYP2D6):c.941T>C (p.Leu314Pro)
HGVS:
  • NC_000022.11:g.42127886A>G
  • NG_008376.3:g.7106T>C
  • NG_008376.4:g.7925T>C
  • NM_000106.6:c.941T>CMANE SELECT
  • NM_001025161.3:c.788T>C
  • NP_000097.3:p.Leu314Pro
  • NP_001020332.2:p.Leu263Pro
  • LRG_303t1:c.941T>C
  • LRG_303:g.7925T>C
  • LRG_303p1:p.Leu314Pro
  • NC_000022.10:g.42523888A>G
Protein change:
L263P
Links:
dbSNP: rs1602570688
NCBI 1000 Genomes Browser:
rs1602570688
Molecular consequence:
  • NM_000106.6:c.941T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001025161.3:c.788T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Tramadol response
Synonyms:
Ultram response
Identifiers:
MedGen: CN078023

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001192409Bruce Budowle Laboratory, University of North Texas Health Science Center
no assertion criteria provided
drug response
(Apr 28, 2018)
Condition: Tramadol response		somaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyes33not providednot providednot providednot providedresearch

Details of each submission

From Bruce Budowle Laboratory, University of North Texas Health Science Center, SCV001192409.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided33not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided33not providednot providednot provided

Last Updated: Apr 23, 2022