U.S. flag

An official website of the United States government

NM_001348946.2(ABCB1):c.1300A>C (p.Ser434Arg) 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:
RCV001028584.2

Allele description [Variation Report for NM_001348946.2(ABCB1):c.1300A>C (p.Ser434Arg)]

NM_001348946.2(ABCB1):c.1300A>C (p.Ser434Arg)

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_001348946.2(ABCB1):c.1300A>C (p.Ser434Arg)
HGVS:
  • NC_000007.14:g.87550221T>G
  • NG_011513.1:g.168028A>C
  • NM_000927.5:c.1300A>C
  • NM_001348944.2:c.1300A>C
  • NM_001348945.2:c.1510A>C
  • NM_001348946.2:c.1300A>CMANE SELECT
  • NP_000918.2:p.Ser434Arg
  • NP_001335873.1:p.Ser434Arg
  • NP_001335874.1:p.Ser504Arg
  • NP_001335875.1:p.Ser434Arg
  • NC_000007.13:g.87179537T>G
Protein change:
S434R
Links:
dbSNP: rs1584871494
NCBI 1000 Genomes Browser:
rs1584871494
Molecular consequence:
  • NM_000927.5:c.1300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348944.2:c.1300A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348945.2:c.1510A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001348946.2:c.1300A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001191370Bruce 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 providedsomaticyes207not providednot providednot providednot providedresearch

Details of each submission

From Bruce Budowle Laboratory, University of North Texas Health Science Center, SCV001191370.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided207not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided207not providednot providednot provided

Last Updated: Apr 23, 2022