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NM_000771.3(CYP2C9):c.[430C=;1075A=] AND Warfarin response

Germline classification:
drug response (1 submission)
Last evaluated:
Mar 10, 2008
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:
RCV000150377.13

Alleles description [Variation Report for NM_000771.3(CYP2C9):c.[430C=;1075A=]]

NM_000771.4(CYP2C9):c.1075= (p.Ile359=)

Gene:
CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000771.4(CYP2C9):c.1075= (p.Ile359=)
HGVS:
  • NC_000010.11:g.94981296=
  • NG_008385.2:g.48139=
  • NM_000771.4:c.1075=MANE SELECT
  • NP_000762.2:p.Ile359=
  • LRG_1195t1:c.1075=
  • LRG_1195:g.48139=
  • LRG_1195p1:p.Ile359=
  • NC_000010.10:g.96741053=
  • NG_008385.1:g.47639=
  • NM_000771.3:c.1075A=
Links:
dbSNP: rs1057910; dbSNP: rs2032229276
NCBI 1000 Genomes Browser:
rs1057910
Molecular consequence:
  • NM_000771.4:c.1075= - no sequence alteration - [Sequence Ontology: SO:0002073]
Observations:
373

NM_000771.4(CYP2C9):c.430= (p.Arg144=)

Gene:
CYP2C9:cytochrome P450 family 2 subfamily C member 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
10q23.33
Genomic location:
Preferred name:
NM_000771.4(CYP2C9):c.430= (p.Arg144=)
HGVS:
  • NC_000010.11:g.94942290=
  • NG_008385.2:g.9133=
  • NM_000771.4:c.430=MANE SELECT
  • NP_000762.2:p.Arg144=
  • LRG_1195t1:c.430=
  • LRG_1195:g.9133=
  • LRG_1195p1:p.Arg144=
  • NC_000010.10:g.96702047=
  • NG_008385.1:g.8633=
  • NM_000771.3:c.430C=
Links:
dbSNP: rs1799853
NCBI 1000 Genomes Browser:
rs1799853
Molecular consequence:
  • NM_000771.4:c.430= - no sequence alteration - [Sequence Ontology: SO:0002073]
Observations:
373

Condition(s)

Name:
Warfarin response
Synonyms:
COUMARIN SENSITIVITY; COUMARIN, POOR METABOLISM OF; WARFARIN RESISTANCE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007390; MedGen: C0750384; OMIM: 122700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000197512Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine
no assertion criteria provided
drug response
(Mar 10, 2008)
Condition: Warfarin Metabolism		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided376373not providednot providednot providedclinical testing

Details of each submission

From Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine, SCV000197512.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided376not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided376not provided373not provided

Last Updated: Nov 3, 2024