NM_000754.4(COMT):c.615+75G>C 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:: RCV001028869.2

Allele description [Variation Report for NM_000754.4(COMT):c.615+75G>C]

NM_000754.4(COMT):c.615+75G>C

Gene:

COMT:catechol-O-methyltransferase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q11.21

Genomic location:

Preferred name:

NM_000754.4(COMT):c.615+75G>C

HGVS:

NC_000022.11:g.19964374G>C
NG_011526.1:g.27635G>C
NM_000754.4:c.615+75G>CMANE SELECT
NM_001135161.2:c.615+75G>C
NM_001135162.2:c.615+75G>C
NM_001362828.2:c.615+75G>C
NM_007310.3:c.465+75G>C
LRG_1010:g.27635G>C
NC_000022.10:g.19951897G>C

Links:

dbSNP: rs4646315

NCBI 1000 Genomes Browser:

rs4646315

Molecular consequence:

NM_000754.4:c.615+75G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001135161.2:c.615+75G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001135162.2:c.615+75G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001362828.2:c.615+75G>C - intron variant - [Sequence Ontology: SO:0001627]
NM_007310.3:c.465+75G>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

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

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Vitamin K1-d7 (0)
Protein
PREDICTED: Gambusia affinis acetylserotonin O-methyltransferase 2 (asmt2), mRNA
PREDICTED: Gambusia affinis acetylserotonin O-methyltransferase 2 (asmt2), mRNA
gi|2106649952|ref|XM_044142926.1|

Nucleotide
Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:4993878), partial cds
Homo sapiens nucleoporin 205kDa, mRNA (cDNA clone IMAGE:4993878), partial cds
gi|39645575|gb|BC063612.1|

Nucleotide
BF (13)
ClinVar
BF AND (alive[prop]) (845)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001191655	Bruce Budowle Laboratory, University of North Texas Health Science Center	no assertion criteria provided	drug response (Apr 28, 2018) Condition: Tramadol response	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001191655

Bruce Budowle Laboratory, University of North Texas Health Science Center

no assertion criteria provided

drug response
(Apr 28, 2018)
Condition: Tramadol response

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	206	not provided	not provided	not provided	not provided	research

Details of each submission

From Bruce Budowle Laboratory, University of North Texas Health Science Center, SCV001191655.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	206	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		206	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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